aminolevulinic acid and Porphyria, Acute Intermittent studies

Aminolevulinic Acid: A compound produced from succinyl-CoA and GLYCINE as an intermediate in heme synthesis. It is used as a PHOTOCHEMOTHERAPY for actinic KERATOSIS.
5-aminolevulinic acid : The simplest delta-amino acid in which the hydrogens at the gamma position are replaced by an oxo group. It is metabolised to protoporphyrin IX, a photoactive compound which accumulates in the skin. Used (in the form of the hydrochloride salt)in combination with blue light illumination for the treatment of minimally to moderately thick actinic keratosis of the face or scalp.

Porphyria, Acute Intermittent: An autosomal dominant porphyria that is due to a deficiency of HYDROXYMETHYLBILANE SYNTHASE in the LIVER, the third enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features are recurrent and life-threatening neurologic disturbances, ABDOMINAL PAIN, and elevated level of AMINOLEVULINIC ACID and PORPHOBILINOGEN in the urine.

Research Excerpts

Excerpt	Relevance	Reference
"There is now convincing evidence that delta-aminolevulinic acid is the cause of pain in the acute porphyrias."	7.81	Role of delta-aminolevulinic acid in the symptoms of acute porphyria. ( Bissell, DM; Blanc, PD; Lai, JC; Meister, RK, 2015)
"Attacks of neuropathic pain, usually abdominal, are characteristic of the acute porphyrias and accompanied by overproduction of heme-precursor molecules, specifically delta-aminolevulinic acid and porphobilinogen."	7.81	Role of delta-aminolevulinic acid in the symptoms of acute porphyria. ( Bissell, DM; Blanc, PD; Lai, JC; Meister, RK, 2015)
"We review genetic acute porphyria, hereditary tyrosinemia, and an acquired condition, lead poisoning."	5.42	Role of delta-aminolevulinic acid in the symptoms of acute porphyria. ( Bissell, DM; Blanc, PD; Lai, JC; Meister, RK, 2015)
"Attacks of neuropathic pain, usually abdominal, are characteristic of the acute porphyrias and accompanied by overproduction of heme-precursor molecules, specifically delta-aminolevulinic acid and porphobilinogen."	5.42	Role of delta-aminolevulinic acid in the symptoms of acute porphyria. ( Bissell, DM; Blanc, PD; Lai, JC; Meister, RK, 2015)
"The acute hepatic porphyrias (AHP) are rare, inborn errors of heme-metabolism and include acute intermittent porphyria, hereditary coproporphyria, variegate porphyria, and porphyria due to severe deficiency of 5-aminolevulinic acid dehydratase."	5.41	AGA Clinical Practice Update on Diagnosis and Management of Acute Hepatic Porphyrias: Expert Review. ( Balwani, M; Bonkovsky, HL; Lim, JK; Wang, B, 2023)
") Key secondary end points were levels of ALA and porphobilinogen and the annualized attack rate among patients with acute hepatic porphyria, along with hemin use and daily worst pain scores in patients with acute intermittent porphyria."	5.34	Phase 3 Trial of RNAi Therapeutic Givosiran for Acute Intermittent Porphyria. ( Anderson, KE; Balwani, M; Bissell, DM; Bonkovsky, HL; Chen, J; Garg, P; Gouya, L; Harper, P; Horie, Y; Ivanova, A; Kauppinen, R; Keel, SB; Kim, JB; Ko, JJ; Langendonk, JG; Liu, S; Minder, E; Parker, C; Peiró, PA; Penz, C; Phillips, J; Rees, DC; Sardh, E; Silver, SM; Simon, AR; Stein, PE; Stölzel, U; Sweetser, MT; Vaishnaw, A; Vassiliou, D; Ventura, P; Wang, B; Wang, JD; Windyga, J, 2020)
" Among the patients with acute intermittent porphyria, givosiran led to lower levels of urinary ALA and porphobilinogen, fewer days of hemin use, and better daily scores for pain than placebo."	5.34	Phase 3 Trial of RNAi Therapeutic Givosiran for Acute Intermittent Porphyria. ( Anderson, KE; Balwani, M; Bissell, DM; Bonkovsky, HL; Chen, J; Garg, P; Gouya, L; Harper, P; Horie, Y; Ivanova, A; Kauppinen, R; Keel, SB; Kim, JB; Ko, JJ; Langendonk, JG; Liu, S; Minder, E; Parker, C; Peiró, PA; Penz, C; Phillips, J; Rees, DC; Sardh, E; Silver, SM; Simon, AR; Stein, PE; Stölzel, U; Sweetser, MT; Vaishnaw, A; Vassiliou, D; Ventura, P; Wang, B; Wang, JD; Windyga, J, 2020)
"These results demonstrate that oral ALA loading can be used as an in vivo model to study the metabolism of the four urinary coproporphyrin isomers I-IV especially in ALAD deficiency porphyria and in acute lead poisoning."	5.09	Investigations on the formation of urinary coproporphyrin isomers I-IV in 5-aminolevulinic acid dehydratase deficiency porphyria, acute lead intoxication and after oral 5-aminolevulinic acid loading. ( Doss, MO; Egeler, E; Gross, U; Jacob, K, 1999)
"There is now convincing evidence that delta-aminolevulinic acid is the cause of pain in the acute porphyrias."	3.81	Role of delta-aminolevulinic acid in the symptoms of acute porphyria. ( Bissell, DM; Blanc, PD; Lai, JC; Meister, RK, 2015)
"Attacks of neuropathic pain, usually abdominal, are characteristic of the acute porphyrias and accompanied by overproduction of heme-precursor molecules, specifically delta-aminolevulinic acid and porphobilinogen."	3.81	Role of delta-aminolevulinic acid in the symptoms of acute porphyria. ( Bissell, DM; Blanc, PD; Lai, JC; Meister, RK, 2015)
" We have investigated the effect of repetitive acute attacks on renal function and the effect of total or five-sixth nephrectomy causing renal insufficiency on hepatic heme synthesis in the porphobilinogen deaminase (PBGD)-deficient (AIP) mouse."	3.78	Renal failure affects the enzymatic activities of the three first steps in hepatic heme biosynthesis in the acute intermittent porphyria mouse. ( Enríquez de Salamanca, R; Fontanellas, A; Harper, P; Mauleón, I; Prieto, J; Salido, E; Sampedro, A; Sardh, E; Unzu, C, 2012)
"Accurate determinations of 5-aminolevulinic acid (ALA) and porphobilinogen (PBG) in physiologic fluids are required for the diagnosis and therapeutic monitoring of acute porphyrias."	3.77	A LC-MS/MS method for the specific, sensitive, and simultaneous quantification of 5-aminolevulinic acid and porphobilinogen. ( Balwani, M; Bishop, D; Desnick, RJ; Yasuda, M; Yu, C; Zhang, J, 2011)
"Measurement of 5-aminolevulinic acid (ALA) in serum is potentially useful in acute porphyrias, lead poisoning and hereditary tyrosinemia."	3.72	Fluorometric measurement of 5-aminolevulinic acid in serum. ( Anderson, KE; Goeger, DE; Lee, C; Qiao, X, 2004)
"A new form of acute hepatic porphyria with double genetic defect--deficiency of porphobilinogen deaminase and coproporphyrinogen oxidase--is described."	3.69	Coexistence of hereditary coproporphyria with acute intermittent porphyria. ( Gregor, A; Kostrzewska, E; Stachurska, H; Tarczynska-Nosal, S, 1994)
"One patient had developed hepatocellular carcinoma (HCC), the other intrahepatic cholangiocarcinoma (CCA)."	3.01	Heterogeneous molecular behavior in liver tumors (HCC and CCA) of two patients with acute intermittent porphyria. ( Beykirch, MK; Bronisch, O; Haverkamp, T; Knösel, T; Mogler, C; Petrides, PE; Rummeny, C; Schmid, C; Stauch, T; Weichert, W, 2023)
"The exact mechanism of carcinogenesis of this rare tumor is unknown, however."	3.01	Heterogeneous molecular behavior in liver tumors (HCC and CCA) of two patients with acute intermittent porphyria. ( Beykirch, MK; Bronisch, O; Haverkamp, T; Knösel, T; Mogler, C; Petrides, PE; Rummeny, C; Schmid, C; Stauch, T; Weichert, W, 2023)
"Acute intermittent porphyria is the most common type of AHP, with an estimated prevalence of patients with symptoms of approximately 1 in 100,000."	3.01	AGA Clinical Practice Update on Diagnosis and Management of Acute Hepatic Porphyrias: Expert Review. ( Balwani, M; Bonkovsky, HL; Lim, JK; Wang, B, 2023)
"The acute hepatic porphyrias (AHP) are rare, inborn errors of heme-metabolism and include acute intermittent porphyria, hereditary coproporphyria, variegate porphyria, and porphyria due to severe deficiency of 5-aminolevulinic acid dehydratase."	3.01	AGA Clinical Practice Update on Diagnosis and Management of Acute Hepatic Porphyrias: Expert Review. ( Balwani, M; Bonkovsky, HL; Lim, JK; Wang, B, 2023)
" Greater and more sustained reductions in ALA and PBG were achieved with once monthly dosing compared with once quarterly dosing."	2.94	Pharmacokinetics and Pharmacodynamics of the Small Interfering Ribonucleic Acid, Givosiran, in Patients With Acute Hepatic Porphyria. ( Agarwal, S; Clausen, VA; Goel, V; Habtemariam, BA; Kim, JB; Robbie, GJ; Simon, AR, 2020)
" This phase I study evaluated the safety, pharmacokinetic, and pharmacodynamic profile of subcutaneously (SC) administered givosiran in patients with acute intermittent porphyria, the most common AHP type."	2.94	Pharmacokinetics and Pharmacodynamics of the Small Interfering Ribonucleic Acid, Givosiran, in Patients With Acute Hepatic Porphyria. ( Agarwal, S; Clausen, VA; Goel, V; Habtemariam, BA; Kim, JB; Robbie, GJ; Simon, AR, 2020)
" In AIP mice, preventive treatment with an experimental fusion protein of insulin and apolipoprotein A-I improved the disease by promoting fat mobilization in adipose tissue, increasing the metabolite bioavailability for the TCA cycle and inducing mitochondrial biogenesis in the liver."	2.82	Understanding Carbohydrate Metabolism and Insulin Resistance in Acute Intermittent Porphyria. ( Córdoba, KM; Ena, J; Enríquez de Salamanca, R; Fontanellas, A; Jericó, D; Morales-Conejo, M; Solares, I, 2022)
"No serious adverse events were observed."	2.73	Safety, pharmacokinetics and pharmocodynamics of recombinant human porphobilinogen deaminase in healthy subjects and asymptomatic carriers of the acute intermittent porphyria gene who have increased porphyrin precursor excretion. ( Andersson, DE; Harper, P; Rejkjaer, L; Sardh, E, 2007)
"The recombinant human porphobilinogen deaminase enzyme preparation was found to be safe to administer and effective for removal of the accumulated metabolite porphobilinogen from plasma and urine."	2.73	Safety, pharmacokinetics and pharmocodynamics of recombinant human porphobilinogen deaminase in healthy subjects and asymptomatic carriers of the acute intermittent porphyria gene who have increased porphyrin precursor excretion. ( Andersson, DE; Harper, P; Rejkjaer, L; Sardh, E, 2007)
" The pharmacodynamic effect of the enzyme was studied through changes in plasma porphobilinogen concentrations."	2.73	Safety, pharmacokinetics and pharmocodynamics of recombinant human porphobilinogen deaminase in healthy subjects and asymptomatic carriers of the acute intermittent porphyria gene who have increased porphyrin precursor excretion. ( Andersson, DE; Harper, P; Rejkjaer, L; Sardh, E, 2007)
" The pharmacokinetic profile of recombinant human porphobilinogen deaminase showed dose proportionality, and the elimination half-life was about 2."	2.73	Safety, pharmacokinetics and pharmocodynamics of recombinant human porphobilinogen deaminase in healthy subjects and asymptomatic carriers of the acute intermittent porphyria gene who have increased porphyrin precursor excretion. ( Andersson, DE; Harper, P; Rejkjaer, L; Sardh, E, 2007)
"Acute intermittent porphyria is an autosomal dominant disorder caused by deficient activity of the third enzyme in the haem biosynthetic pathway, porphobilinogen deaminase."	2.73	Safety, pharmacokinetics and pharmocodynamics of recombinant human porphobilinogen deaminase in healthy subjects and asymptomatic carriers of the acute intermittent porphyria gene who have increased porphyrin precursor excretion. ( Andersson, DE; Harper, P; Rejkjaer, L; Sardh, E, 2007)
"An increased incidence of hepatocellular carcinoma (HCC) has been reported as a long-term manifestation in symptomatic AIP patients."	1.91	Transcriptome profile analysis reveals putative molecular mechanisms of 5-aminolevulinic acid toxicity. ( Lichtenstein, F; Menezes, PR; Onuki, J; Pellegrina, DVDS; Reis, EM; Trufen, CEM, 2023)
" Finally, a theoretical hemin effect was implemented to illustrate the applicability of the model to dosage optimization in drug therapies."	1.51	Computational disease model of phenobarbital-induced acute attacks in an acute intermittent porphyria mouse model. ( Fontanellas, A; Jericó, D; Parra-Guillén, ZP; Sampedro, A; Serrano-Mendioroz, I; Trocóniz, IF; Vera-Yunca, D, 2019)
"We review genetic acute porphyria, hereditary tyrosinemia, and an acquired condition, lead poisoning."	1.42	Role of delta-aminolevulinic acid in the symptoms of acute porphyria. ( Bissell, DM; Blanc, PD; Lai, JC; Meister, RK, 2015)
"Attacks of neuropathic pain, usually abdominal, are characteristic of the acute porphyrias and accompanied by overproduction of heme-precursor molecules, specifically delta-aminolevulinic acid and porphobilinogen."	1.42	Role of delta-aminolevulinic acid in the symptoms of acute porphyria. ( Bissell, DM; Blanc, PD; Lai, JC; Meister, RK, 2015)
"Acute intermittent porphyria is the most common of hepatic porphyrias and can tax the therapeutic capabilities of the physician to the limit."	1.35	Hemodialysis: a therapeutic option for severe attacks of acute intermittent porphyria in developing countries. ( Jayakumar, M; Manorajan, R; Prabahar, MR; Sathiyakumar, D; Soundararajan, P, 2008)
"Oral griseofulvin induced an increase in mitochondrial cytochrome P-450 levels, while chronic Isoflurane produced a reduction on its levels, without alterations on microsomal cytochrome P-450."	1.34	Metabolization of porphyrinogenic agents in brain: involvement of the phase I drug metabolizing system. A comparative study in liver and kidney. ( Batlle, AM; Buzaleh, AM; Lavandera, JV, 2007)
"Analysis of primary diagnosis of acute porphyria hepatica in Russia (region-related prevalence, duration of diagnosis, complications because of late pathogenetic treatment) demonstrates the importance of screening diagnosis of acute porphyria at the level of municipal clinics."	1.34	[Acute porphyrias: problem of primary diagnosis in Russia and CIS countries]. ( Karpova, IV; Kravshenko, SK; Kremenetskaia, AM; Luchinina, IuA; Luk'ianenko, AV; Pustovoĭt, IaS; Surin, VL, 2007)
"We aimed to treat severe acute intermittent porphyria in a 19-year-old woman by liver transplantation."	1.32	Liver transplantation as a cure for acute intermittent porphyria. ( Badminton, MN; Bramhall, SR; Elder, GH; Elias, E; Orug, T; Rhodes, JM; Soonawalla, ZF, 2004)
"5-Aminolevulinic acid (ALA) is a heme precursor that accumulates in acute intermittent porphyria (AIP) due to enzymatic deficiencies in the heme biosynthetic pathway Its accumulation has been associated with several symptoms, such as abdominal pain attacks, neuromuscular weaknesses, neuropsychiatric alterations and increased hepatocellular carcinoma (HCC) incidence."	1.31	Is 5-aminolevulinic acid involved in the hepatocellular carcinogenesis of acute intermittent porphyria? ( Cadet, J; Di Mascio, P; Dörnemann, D; Douki, T; Medeiros, MH; Onuki, J; Teixeira, PC, 2002)
"A new form of acute hepatic porphyria with double genetic defect--deficiency of porphobilinogen deaminase and coproporphyrinogen oxidase--is described."	1.29	Coexistence of hereditary coproporphyria with acute intermittent porphyria. ( Gregor, A; Kostrzewska, E; Stachurska, H; Tarczynska-Nosal, S, 1994)

Research

Studies (76)

Authors

Clinical Trials (4)

Trial Overview

Trial Outcomes

Annualized Rate of Hemin Administration in Participants With AIP

Timeframe	Studies, this research(%)	All Research%
pre-1990	5 (6.58)	18.7374
1990's	17 (22.37)	18.2507
2000's	26 (34.21)	29.6817
2010's	18 (23.68)	24.3611
2020's	10 (13.16)	2.80

Authors	Studies
Vera-Yunca, D	2
Córdoba, KM	2
Parra-Guillen, ZP	2
Jericó, D	3
Fontanellas, A	6
Trocóniz, IF	2
Gomez-Gomez, A	1
Aguilera, P	1
Langohr, K	1
Casals, G	1
Pavon, C	1
Marcos, J	1
To-Figueras, J	1
Pozo, OJ	1
Haverkamp, T	1
Bronisch, O	1
Knösel, T	1
Mogler, C	1
Weichert, W	1
Stauch, T	1
Schmid, C	1
Rummeny, C	1
Beykirch, MK	1
Petrides, PE	1
Solares, I	1
Morales-Conejo, M	1
Ena, J	1
Enríquez de Salamanca, R	2
Wang, B	2
Bonkovsky, HL	2
Lim, JK	1
Balwani, M	4
Menezes, PR	1
Trufen, CEM	1
Lichtenstein, F	1
Pellegrina, DVDS	1
Reis, EM	1
Onuki, J	6
Lissing, M	1
Wester, A	1
Vassiliou, D	2
Floderus, Y	3
Harper, P	11
Sardh, E	7
Wahlin, S	2
Agarwal, S	1
Simon, AR	2
Goel, V	1
Habtemariam, BA	1
Clausen, VA	1
Kim, JB	2
Robbie, GJ	1
Ventura, P	1
Peiró, PA	1
Rees, DC	4
Stölzel, U	1
Bissell, DM	2
Windyga, J	1
Anderson, KE	3
Parker, C	1
Silver, SM	1
Keel, SB	1
Wang, JD	1
Stein, PE	1
Phillips, J	1
Ivanova, A	1
Langendonk, JG	1
Kauppinen, R	3
Minder, E	1
Horie, Y	2
Penz, C	1
Chen, J	1
Liu, S	1
Ko, JJ	1
Sweetser, MT	1
Garg, P	1
Vaishnaw, A	1
Gouya, L	2
Cerovac, A	1
Brigic, A	1
Softic, D	1
Barakovic, A	1
Adzajlic, S	1
Storjord, E	2
Dahl, JA	1
Landsem, A	1
Ludviksen, JK	1
Karlsen, MB	1
Karlsen, BO	1
Brekke, OL	2
Yasuda, M	3
Gan, L	2
Chen, B	2
Yu, C	3
Zhang, J	2
Gama-Sosa, MA	1
Pollak, DD	1
Berger, S	1
Phillips, JD	2
Edelmann, W	1
Desnick, RJ	3
Serrano-Mendioroz, I	1
Sampedro, A	3
Yin, Z	1
Ellis, EC	1
Ericzon, BG	1
Nowak, G	2
Marsden, JT	3
Lai, JC	1
Meister, RK	1
Blanc, PD	1
Pallet, N	1
Mami, I	1
Schmitt, C	1
Karim, Z	1
François, A	1
Rabant, M	1
Nochy, D	1
Deybach, JC	5
Xu-Dubois, Y	1
Thervet, E	1
Puy, H	4
Karras, A	1
Erwin, AL	1
Liu, LU	1
Kadirvel, S	1
Fiel, MI	1
Gordon, RE	1
Clavero, S	1
Arvelakis, A	1
Naik, H	1
Martin, LD	1
Sadagoparamanujam, VM	1
Florman, SS	1
D'Avola, D	1
López-Franco, E	1
Sangro, B	1
Pañeda, A	1
Grossios, N	1
Gil-Farina, I	1
Benito, A	1
Twisk, J	1
Paz, M	1
Ruiz, J	1
Schmidt, M	1
Petry, H	1
de Salamanca, RE	2
Prieto, J	3
González-Aseguinolaza, G	2
Billoo, AG	1
Lone, SW	1
Luder, AS	1
Mamet, R	1
Farbstein, I	1
Schoenfeld, N	1
Andersson, DE	4
Henrichson, A	1
Unzu, C	2
Mauleón, I	2
Vanrell, L	1
Dubrot, J	1
Melero, I	1
Tébar, MT	1
Aguilera, L	1
Webber, PR	1
Aarsand, AK	2
Sandvik, AK	1
Skadberg, Ø	1
Lindberg, M	1
Sandberg, S	2
Bouizegarene, P	1
da Silva, VP	1
Bishop, D	1
Kuo, HC	2
Huang, CC	2
Chu, CC	1
Lee, MJ	2
Chuang, WL	2
Wu, CL	1
Wu, T	1
Ning, HC	1
Liu, CY	1
Salido, E	1
Benton, CM	2
Couchman, L	2
Moniz, C	2
Lim, CK	3
von und zu Fraunberg, M	1
Hultdin, J	1
Schmauch, A	1
Wikberg, A	1
Dahlquist, G	1
Andersson, C	2
Johansson, A	2
Möller, C	3
WITH, TK	1
JAMES, GW	1
RUDOLPH, SG	1
ABBOTT, LD	1
GRANICK, S	1
VANDEN SCHRIECK, HG	1
Warholm, C	1
Wilczek, H	1
Soonawalla, ZF	1
Orug, T	1
Badminton, MN	1
Elder, GH	1
Rhodes, JM	1
Bramhall, SR	1
Elias, E	1
Blomberg, P	1
Lee, C	1
Qiao, X	1
Goeger, DE	1
Almeida, EA	1
Medeiros, MH	4
Di Mascio, P	5
Herrick, AL	1
McColl, KE	1
Rejkjaer, L	2
Petersen, PH	1
Grünberg-Etkovitz, N	1
Greenbaum, L	1
Grinblat, B	1
Malik, Z	1
Nielsen, EW	1
Lavandera, JV	1
Batlle, AM	1
Buzaleh, AM	1
Karpova, IV	1
Pustovoĭt, IaS	1
Luchinina, IuA	1
Surin, VL	1
Luk'ianenko, AV	1
Kravshenko, SK	1
Kremenetskaia, AM	1
Wang, SM	1
Lu, XT	1
Hua, Y	1
Prabahar, MR	1
Manorajan, R	1
Sathiyakumar, D	1
Soundararajan, P	1
Jayakumar, M	1
Romeo, G	1
Elcock, D	1
Norris, A	1
Fraga, CG	1
Lucesoli, F	1
Bechara, EJ	4
Gregor, A	2
Kostrzewska, E	1
Tarczynska-Nosal, S	1
Stachurska, H	1
Helson, L	1
Braverman, S	1
Mangiardi, J	1
Bogdan, A	1
Callebert, J	1
Baumgartner, M	1
Voisin, P	1
Nordmann, Y	3
Touitou, Y	1
Lindberg, RL	2
Porcher, C	1
Grandchamp, B	1
Ledermann, B	1
Bürki, K	1
Brandner, S	1
Aguzzi, A	1
Meyer, UA	2
Luo, JL	1
Deka, J	1
Rosipal, R	1
Lamoril, J	1
Martasek, P	1
Goerz, G	1
Bolsen, K	1
Böhrer, H	1
Fritsch, C	1
Kalka, K	1
Rominger, KL	1
Douki, T	2
Cadet, J	2
Gross, U	2
Sassa, S	1
Jacob, K	2
Frank, M	1
Doss, MO	2
Schattenberg, AV	1
de Pauw, BE	1
Egeler, E	1
Maeda, N	1
Sasaki, Y	1
Ueta, E	1
Adachi, K	1
Nanba, E	1
Kawasaki, H	1
Kudo, Y	1
Kondo, M	1
Schuurmans, MM	1
Hoffmann, F	1
Schneider-Yin, X	1
Szlendak, U	1
Wettstein, A	1
Lipniacka, A	1
Rüfenacht, UB	1
Minder, EI	1
Teixeira, PC	1
Dörnemann, D	1
Iwanov, ED	1
Adjarov, D	1
Tsanev, R	1
Mustajoki, P	1
Lannfelt, L	1
Lilius, L	1
Koistinen, J	1

Trial	Phase	Enrollment	Study Type	Start Date	Status
ENVISION: A Phase 3 Randomized, Double-blind, Placebo-Controlled Multicenter Study With an Open-label Extension to Evaluate the Efficacy and Safety of Givosiran in Patients With Acute Hepatic Porphyrias[NCT03338816]	Phase 3	94 participants (Actual)	Interventional	2017-11-16	Completed
Dental Health, Diet, Inflammation and Biomarkers in Patients With Acute Intermittent Porphyria(AIP)[NCT01617642]		100 participants (Actual)	Observational	2012-07-01	Active, not recruiting
Observational Study of Acute Intermittent Porphyria Patients[NCT02076763]		9 participants (Actual)	Observational	2011-08-31	Completed
Phase I, Multicentre, Open Label, Single Dose, Dose-ranging Clinical Trial to Investigate the Safety and Tolerability of a Gene Therapy rAAV2/5-PBGD for the Treatment of Acute Intermittent Porphyria[NCT02082860]	Phase 1	8 participants (Actual)	Interventional	2012-11-30	Completed
[information is prepared from clinicaltrials.gov, extracted Sep-2024]

Annualized rate of hemin doses was evaluated as annualized days of hemin use. (NCT03338816)
Timeframe: 6 months

Annualized Rate of Porphyria Attacks in Participants With Acute Intermittent Porphyria (AIP)

Intervention	annualized rate of use (Mean)
Placebo	29.71
Givosiran 2.5 mg/kg	6.77

Porphyria attacks were defined as meeting all of the following criteria: an acute episode of neurovisceral pain in the abdomen, back, chest, extremities and/or limbs, no other medically determined cause, and required treatment with intravenous (IV) dextrose or hemin, carbohydrates, or analgesics, or other medications such as antiemetics at a dose or frequency beyond the participant's usual daily porphyria management. The annualized rate of porphyria attacks is a composite endpoint which included porphyria attacks requiring hospitalization, urgent healthcare visit, or IV hemin administration at home. (NCT03338816)
Timeframe: 6 months

Annualized Rate of Porphyria Attacks in Participants With AHP

Intervention	annualized attack rate (Mean)
Placebo	12.52
Givosiran 2.5 mg/kg	3.22

Area Under the Curve (AUC) of the Change From Baseline in Weekly Mean Score of Daily Worst Pain as Measured by the Brief Pain Inventory-Short Form (BPI-SF) Numeric Rating Scale (NRS) in Participants With AIP

Intervention	annualized attack rate (Mean)
Placebo	12.26
Givosiran 2.5 mg/kg	3.35

Participants rated worst daily pain score in an eDiary using the 11-point BPI-SF NRS, in which 0=no pain and 10=worst pain. Daily eDiary entries were averaged into a weekly (i.e. 7 day) score. The change from baseline in weekly mean scores is defined as the post baseline weekly mean score minus the baseline score. Lower scores indicate an improvement. The 6-month AUC was calculated based on change from baseline in weekly mean scores. (NCT03338816)
Timeframe: Baseline and 6 months

AUC of the Change From Baseline in Weekly Mean Score Daily Worst Nausea Score as Measured by NRS in Participants With AIP

Intervention	score on a scale*week (Median)
Placebo	5.286
Givosiran 2.5 mg/kg	-11.514

Participants rated worst daily nausea score in an eDiary using an 11-point NRS, in which 0=no nausea and 10=worst nausea. Daily eDiary entries were averaged into a weekly (i.e. 7 day) score. The change from baseline in weekly mean scores is defined as the postbaseline weekly mean score minus the baseline score. Lower scores indicate an improvement. The 6-month AUC was calculated based on change from baseline in weekly mean scores. (NCT03338816)
Timeframe: Baseline and 6 months

AUC of the Change From Baseline in Weekly Mean Score of Daily Worst Fatigue Score as Measured by the Brief Fatigue Inventory-Short Form (BFI-SF) NRS in Participants With AIP

Intervention	score on a scale (Least Squares Mean)
Placebo	-4.011
Givosiran 2.5 mg/kg	1.481

Participants rated daily worst fatigue score in an eDiary using the 11-point BFI-SF NRS, in which 0=no fatigue and 10=worst fatigue. Daily eDiary entries were averaged into a weekly (i.e. 7 day) score. The change from baseline in weekly mean scores is defined as the post baseline weekly mean score minus the baseline score. Lower scores indicate an improvement. The 6-month AUC was calculated based on change from baseline in weekly mean scores. (NCT03338816)
Timeframe: Baseline and 6 months

Average Change From Baseline in Weekly Mean Score Daily Worst Nausea Score as Measured by NRS in Participants With AIP

Intervention	score on a scale*week (Least Squares Mean)
Placebo	-4.208
Givosiran 2.5 mg/kg	-11.148

Average Change From Baseline in Weekly Mean Score of Daily Worst Fatigue Score as Measured by the Brief Fatigue Inventory-Short Form (BFI-SF) NRS in Participants With AIP

Intervention	score on a scale (Least Squares Mean)
Placebo	-0.181
Givosiran 2.5 mg/kg	0.067

Participants rated daily worst fatigue score in an eDiary using the 11-point BFI-SF NRS, in which 0=no fatigue and 10=worst fatigue. Daily eDiary entries were averaged into a weekly (i.e. 7 day) score. The change from baseline in weekly mean scores is defined as the postbaseline weekly mean score minus the baseline score. Lower scores indicate an improvement. (NCT03338816)
Timeframe: Baseline and 6 months

Average Change From Baseline in Weekly Mean Score of Daily Worst Pain as Measured by the Brief Pain Inventory-Short Form (BPI-SF) Numeric Rating Scale (NRS) in Participants With AIP

Intervention	score on a scale (Least Squares Mean)
Placebo	-0.182
Givosiran 2.5 mg/kg	-0.502

Participants rated worst daily pain score in an eDiary using the 11-point BPI-SF NRS, in which 0=no pain and 10=worst pain. Daily eDiary entries were averaged into a weekly (i.e. 7 day) score. The change from baseline in weekly mean scores is defined as the postbaseline weekly mean score minus the baseline score. Lower scores indicate an improvement. (NCT03338816)
Timeframe: Baseline and 6 months

Change From Baseline in the Physical Component Summary (PCS) of the 12-Item Short Form Survey (SF-12) in Participants With AIP

Intervention	score on a scale (Median)
Placebo	0.245
Givosiran 2.5 mg/kg	-0.506

The SF-12 is a survey designed for use in patients with multiple chronic conditions. This 12-item scale can be used to assess the physical and mental health of respondents. 10 of the 12 questions are answered on a 5 point likert scale and 2 are answered on a 3 point likert scale. The questions are then scored and weighted into 2 subscales, physical health and mental health. Respondents can have a score that ranges from 0-100 with 100 being the best score and indicating high physical or mental health. A 3 point change in SF-12 score reflects a meaningful difference. A higher score indicates improvement. (NCT03338816)
Timeframe: Baseline and 6 months

The PD Effect of Givosiran on Urine Levels of Porphobilinogen (PBG) in Participants With AIP

Intervention	score on a scale (Least Squares Mean)
Placebo	1.431
Givosiran 2.5 mg/kg	5.369

The PD effect of givosiran was evaluated by spot urine PBG levels normalized to spot urine creatinine levels. (NCT03338816)
Timeframe: 6 months

The Pharmacodynamic (PD) Effect of Givosiran on Urine Levels of Delta-aminolevulinic Acid (ALA) in Participants With AIP

Intervention	mmol/mol Cr (Least Squares Mean)
Placebo	49.110
Givosiran 2.5 mg/kg	12.906

The PD effect of givosiran was evaluated by spot urine ALA levels normalized to spot urine creatinine levels. (NCT03338816)
Timeframe: 3 and 6 months

Reviews

Trials

Other Studies

63 other studies available for aminolevulinic acid and Porphyria, Acute Intermittent

Intervention	mmol/mol creatinine (Cr) (Least Squares Mean)
	Month 3	Month 6
Givosiran 2.5 mg/kg	1.756	4.013
Placebo	19.965	23.150

Article	Year
Heterogeneous molecular behavior in liver tumors (HCC and CCA) of two patients with acute intermittent porphyria. Journal of cancer research and clinical oncology, 2023, Volume: 149, Issue:6 Topics: Adult; Aminolevulinic Acid; Carcinogenesis; Carcinoma, Hepatocellular; Female; Flavoproteins; Humans	2023
Understanding Carbohydrate Metabolism and Insulin Resistance in Acute Intermittent Porphyria. International journal of molecular sciences, 2022, Dec-20, Volume: 24, Issue:1 Topics: Aminolevulinic Acid; Animals; Carbohydrate Metabolism; Glucose; Heme; Humans; Hydroxymethylbilane Sy	2022
AGA Clinical Practice Update on Diagnosis and Management of Acute Hepatic Porphyrias: Expert Review. Gastroenterology, 2023, Volume: 164, Issue:3 Topics: Abdominal Pain; Aminolevulinic Acid; Antiemetics; Carcinoma, Hepatocellular; Creatinine; Female; Hem	2023
Acute intermittent porphyria. Best practice & research. Clinical gastroenterology, 2005, Volume: 19, Issue:2 Topics: Abdominal Pain; Adult; Aminolevulinic Acid; Cytochrome P-450 Enzyme System; Erythrocytes; Female; He	2005
The hepatic porphyrias. Progress in medical genetics, 1980, Volume: 4 Topics: 5-Aminolevulinate Synthetase; Acute Disease; Adolescent; Adult; Aminolevulinic Acid; Chemical Phenom	1980
Oxidative stress in acute intermittent porphyria and lead poisoning may be triggered by 5-aminolevulinic acid. Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas, 1996, Volume: 29, Issue:7 Topics: Aminolevulinic Acid; Animals; Calcium; DNA Damage; Heme; Humans; Iron; Lead Poisoning; Lipid Peroxid	1996
[Perplexing acute or chronic somatic or psychiatric symptoms: possibly due to porphyria]. Nederlands tijdschrift voor geneeskunde, 1998, Aug-08, Volume: 142, Issue:32 Topics: Abdominal Pain; Adult; Aminolevulinic Acid; Disease Management; Female; Humans; Laparotomy; Mental D	1998

Article	Year
Pharmacokinetics and Pharmacodynamics of the Small Interfering Ribonucleic Acid, Givosiran, in Patients With Acute Hepatic Porphyria. Clinical pharmacology and therapeutics, 2020, Volume: 108, Issue:1 Topics: Acetylgalactosamine; Adult; Aminolevulinic Acid; Dose-Response Relationship, Drug; Drug Administrati	2020
Phase 3 Trial of RNAi Therapeutic Givosiran for Acute Intermittent Porphyria. The New England journal of medicine, 2020, 06-11, Volume: 382, Issue:24 Topics: Acetylgalactosamine; Adult; Aminolevulinic Acid; Double-Blind Method; Fatigue; Female; Humans; Injec	2020
Phase I open label liver-directed gene therapy clinical trial for acute intermittent porphyria. Journal of hepatology, 2016, Volume: 65, Issue:4 Topics: Aminolevulinic Acid; Animals; Genetic Therapy; Humans; Hydroxymethylbilane Synthase; Mice; Porphyria	2016
Phase I open label liver-directed gene therapy clinical trial for acute intermittent porphyria. Journal of hepatology, 2016, Volume: 65, Issue:4 Topics: Aminolevulinic Acid; Animals; Genetic Therapy; Humans; Hydroxymethylbilane Synthase; Mice; Porphyria	2016
Phase I open label liver-directed gene therapy clinical trial for acute intermittent porphyria. Journal of hepatology, 2016, Volume: 65, Issue:4 Topics: Aminolevulinic Acid; Animals; Genetic Therapy; Humans; Hydroxymethylbilane Synthase; Mice; Porphyria	2016
Phase I open label liver-directed gene therapy clinical trial for acute intermittent porphyria. Journal of hepatology, 2016, Volume: 65, Issue:4 Topics: Aminolevulinic Acid; Animals; Genetic Therapy; Humans; Hydroxymethylbilane Synthase; Mice; Porphyria	2016
Plasma porphobilinogen as a sensitive biomarker to monitor the clinical and therapeutic course of acute intermittent porphyria attacks. European journal of internal medicine, 2009, Volume: 20, Issue:2 Topics: Acute Disease; Adult; Aminolevulinic Acid; Arginine; Biomarkers; Chromatography, Ion Exchange; Drug	2009
Safety, pharmacokinetics and pharmocodynamics of recombinant human porphobilinogen deaminase in healthy subjects and asymptomatic carriers of the acute intermittent porphyria gene who have increased porphyrin precursor excretion. Clinical pharmacokinetics, 2007, Volume: 46, Issue:4 Topics: Adult; Aged; Aminolevulinic Acid; Antibody Formation; Area Under Curve; Chromatography, Liquid; Dose	2007
Investigations on the formation of urinary coproporphyrin isomers I-IV in 5-aminolevulinic acid dehydratase deficiency porphyria, acute lead intoxication and after oral 5-aminolevulinic acid loading. Clinical biochemistry, 1999, Volume: 32, Issue:2 Topics: Administration, Oral; Aminolevulinic Acid; Coproporphyrins; Humans; Isomerism; Lead Poisoning; Male;	1999

Article	Year
Mechanistic modelling of enzyme-restoration effects of new recombinant liver-targeted proteins in acute intermittent porphyria. British journal of pharmacology, 2022, Volume: 179, Issue:14 Topics: Aminolevulinic Acid; Animals; Disease Models, Animal; Heme; Mice; Mice, Inbred C57BL; Porphyria, Acu	2022
Evaluation of Metabolic Changes in Acute Intermittent Porphyria Patients by Targeted Metabolomics. International journal of molecular sciences, 2022, Mar-16, Volume: 23, Issue:6 Topics: Aminolevulinic Acid; Chromatography, Liquid; Humans; Kynurenine; Metabolomics; Porphyria, Acute Inte	2022
Transcriptome profile analysis reveals putative molecular mechanisms of 5-aminolevulinic acid toxicity. Archives of biochemistry and biophysics, 2023, Volume: 738 Topics: Aminolevulinic Acid; Carcinogenesis; Carcinoma, Hepatocellular; Humans; Liver Neoplasms; Porphyria,	2023
Porphyrin precursors and risk of primary liver cancer in acute intermittent porphyria: A case-control study of 188 patients. Journal of inherited metabolic disease, 2023, Volume: 46, Issue:6 Topics: Aged; Aminolevulinic Acid; Case-Control Studies; Humans; Liver Neoplasms; Middle Aged; Porphobilinog	2023
Uncontrolled Acute Intermittent Porphyria as a Cause of Spontaneous Abortion. Medical archives (Sarajevo, Bosnia and Herzegovina), 2020, Volume: 74, Issue:2 Topics: Abortion, Spontaneous; Adult; Aminolevulinic Acid; Contraceptives, Oral, Hormonal; Disease Progressi	2020
Lifestyle factors including diet and biochemical biomarkers in acute intermittent porphyria: Results from a case-control study in northern Norway. Molecular genetics and metabolism, 2019, Volume: 128, Issue:3 Topics: Acute Disease; Adult; Aged; Aminolevulinic Acid; Biomarkers; Case-Control Studies; Cross-Sectional S	2019
Homozygous hydroxymethylbilane synthase knock-in mice provide pathogenic insights into the severe neurological impairments present in human homozygous dominant acute intermittent porphyria. Human molecular genetics, 2019, 06-01, Volume: 28, Issue:11 Topics: Aminolevulinic Acid; Animals; Central Nervous System; Gene Knock-In Techniques; Genes, Dominant; Hom	2019
Computational disease model of phenobarbital-induced acute attacks in an acute intermittent porphyria mouse model. Molecular genetics and metabolism, 2019, Volume: 128, Issue:3 Topics: Aminolevulinic Acid; Animals; Computer Simulation; Disease Models, Animal; Male; Mice; Mice, Inbred	2019
Hepatocyte transplantation ameliorates the metabolic abnormality in a mouse model of acute intermittent porphyria. Cell transplantation, 2014, Volume: 23, Issue:9 Topics: 5-Aminolevulinate Synthetase; Aminolevulinic Acid; Animals; Aryl Hydrocarbon Hydroxylases; Cells, Cu	2014
Urinary excretion of porphyrins, porphobilinogen and δ-aminolaevulinic acid following an attack of acute intermittent porphyria. Journal of clinical pathology, 2014, Volume: 67, Issue:1 Topics: Aminolevulinic Acid; Female; Half-Life; Humans; Male; Porphobilinogen; Porphyria, Acute Intermittent	2014
Role of delta-aminolevulinic acid in the symptoms of acute porphyria. The American journal of medicine, 2015, Volume: 128, Issue:3 Topics: Abdominal Pain; Adult; Aminolevulinic Acid; Chelation Therapy; Diagnosis, Differential; Female; Heme	2015
High prevalence of and potential mechanisms for chronic kidney disease in patients with acute intermittent porphyria. Kidney international, 2015, Volume: 88, Issue:2 Topics: Aged; Aminolevulinic Acid; Apoptosis; Cells, Cultured; Endoplasmic Reticulum Stress; Epithelial Cell	2015
Liver Transplantation for Acute Intermittent Porphyria: Biochemical and Pathologic Studies of the Explanted Liver. Molecular medicine (Cambridge, Mass.), 2015, Jun-05, Volume: 21 Topics: 5-Aminolevulinate Synthetase; Adult; Aminolevulinic Acid; Female; Heme; Humans; Hydroxymethylbilane	2015
A family with acute intermittent porphyria. Journal of the College of Physicians and Surgeons--Pakistan : JCPSP, 2008, Volume: 18, Issue:5 Topics: Adolescent; Aminolevulinic Acid; Family; Female; Genetic Predisposition to Disease; Humans; Pedigree	2008
Awareness is the name of the game: clinical and biochemical evaluation of a case of a girl diagnosed with acute intermittent porphyria associated with autism. Cellular and molecular biology (Noisy-le-Grand, France), 2009, Feb-16, Volume: 55, Issue:1 Topics: Adolescent; Aminolevulinic Acid; Autistic Disorder; Female; Humans; Hydroxymethylbilane Synthase; Mu	2009
Porphyrin precursors and porphyrins in three patients with acute intermittent porphyria and end-stage renal disease under different therapy regimes. Cellular and molecular biology (Noisy-le-Grand, France), 2009, Feb-16, Volume: 55, Issue:1 Topics: Adult; Aminolevulinic Acid; Female; Humans; Kidney Failure, Chronic; Middle Aged; Peritoneal Dialysi	2009
Porphobilinogen deaminase over-expression in hepatocytes, but not in erythrocytes, prevents accumulation of toxic porphyrin precursors in a mouse model of acute intermittent porphyria. Journal of hepatology, 2010, Volume: 52, Issue:3 Topics: Aminolevulinic Acid; Animals; Bone Marrow Transplantation; Disease Models, Animal; Erythrocytes; Fem	2010
[Acute intermittent porphyria and inappropriate ADH syndrome]. Revista espanola de anestesiologia y reanimacion, 2010, Volume: 57, Issue:5 Topics: Abdominal Pain; Adult; Aminolevulinic Acid; Coproporphyrins; Delayed Diagnosis; Dietary Carbohydrate	2010
Acute porphyrias may be overlooked in patients taking methenamine hippurate. Clinical chemistry and laboratory medicine, 2010, Volume: 48, Issue:9 Topics: Aged; Aminolevulinic Acid; Artifacts; Diagnostic Errors; Female; Hippurates; Humans; Methenamine; Po	2010
[Porphyria. What to think in the absence of a cause of abdominal pain]. La Revue du praticien, 2010, Dec-20, Volume: 60, Issue:10 Topics: Abdominal Pain; Aminolevulinic Acid; Female; Humans; Porphobilinogen; Porphyria, Acute Intermittent;	2010
A LC-MS/MS method for the specific, sensitive, and simultaneous quantification of 5-aminolevulinic acid and porphobilinogen. Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 2011, Aug-15, Volume: 879, Issue:24 Topics: Adolescent; Adult; Aminolevulinic Acid; Animals; Child; Child, Preschool; Chromatography, Liquid; Di	2011
Neurological complications of acute intermittent porphyria. European neurology, 2011, Volume: 66, Issue:5 Topics: Adolescent; Adult; Aminolevulinic Acid; Brain; Electroencephalography; Electromyography; Female; Hum	2011
Renal failure affects the enzymatic activities of the three first steps in hepatic heme biosynthesis in the acute intermittent porphyria mouse. PloS one, 2012, Volume: 7, Issue:3 Topics: Aminolevulinic Acid; Animals; Disease Models, Animal; Enzyme Activation; Female; Heme; Hydroxymethyl	2012
Direct and simultaneous determination of 5-aminolaevulinic acid and porphobilinogen in urine by hydrophilic interaction liquid chromatography-electrospray ionisation/tandem mass spectrometry. Biomedical chromatography : BMC, 2012, Volume: 26, Issue:8 Topics: Aminolevulinic Acid; Analysis of Variance; Chromatography, Liquid; Humans; Hydrophobic and Hydrophil	2012
Direct and simultaneous quantitation of 5-aminolaevulinic acid and porphobilinogen in human serum or plasma by hydrophilic interaction liquid chromatography-atmospheric pressure chemical ionization/tandem mass spectrometry. Biomedical chromatography : BMC, 2013, Volume: 27, Issue:2 Topics: Aminolevulinic Acid; Chromatography, Liquid; Humans; Hydrophobic and Hydrophilic Interactions; Least	2013
Molecular and biochemical studies of acute intermittent porphyria in 196 patients and their families. Clinical chemistry, 2002, Volume: 48, Issue:11 Topics: Adolescent; Adult; Aged; Aminolevulinic Acid; DNA; Family; Feces; Female; Humans; Hydroxymethylbilan	2002
Acute intermittent porphyria in childhood: a population-based study. Acta paediatrica (Oslo, Norway : 1992), 2003, Volume: 92, Issue:5 Topics: Adolescent; Age Factors; Aminolevulinic Acid; Child; Child, Preschool; Female; Humans; Male; Photose	2003
Correction of the biochemical defect in porphobilinogen deaminase deficient cells by non-viral gene delivery. Molecular and cellular biochemistry, 2003, Volume: 250, Issue:1-2 Topics: Aminolevulinic Acid; Animals; Chromatography, High Pressure Liquid; Fibroblasts; Gene Transfer Techn	2003
Excretion of porphobilinogen and Delta-aminolaevulinic acid in acute porphyria. Lancet (London, England), 1961, Aug-26, Volume: 2, Issue:7200 Topics: Amino Acids; Aminolevulinic Acid; Biological Products; Humans; Pigments, Biological; Porphobilinogen	1961
Delta-amino-levulinic acid, porphobilinogen, and porphyrin excretion throughout pregnancy in a patient with acute intermittent porphyria with "passive porphyria" in the infant. The Journal of laboratory and clinical medicine, 1961, Volume: 58 Topics: Amino Acids; Aminolevulinic Acid; Female; Humans; Infant, Newborn, Diseases; Porphobilinogen; Porphy	1961
Porphobilinogen and delta-amino levulinic acid in acute porphyria. Proceedings of the Society for Experimental Biology and Medicine. Society for Experimental Biology and Medicine (New York, N.Y.), 1955, Volume: 88, Issue:2 Topics: Aminolevulinic Acid; Humans; Keto Acids; Ketones; Porphobilinogen; Porphyria, Acute Intermittent; Po	1955
Renal transplantation in a case of acute intermittent porphyria. Journal of clinical pharmacology, 2003, Volume: 43, Issue:10 Topics: Aminolevulinic Acid; Azathioprine; Creatinine; Cyclosporine; Drug Interactions; Female; Graft Reject	2003
Liver transplantation as a cure for acute intermittent porphyria. Lancet (London, England), 2004, Feb-28, Volume: 363, Issue:9410 Topics: Adult; Aminolevulinic Acid; Female; Follow-Up Studies; Humans; Liver Transplantation; Porphyria, Acu	2004
Adenoviral-mediated expression of porphobilinogen deaminase in liver restores the metabolic defect in a mouse model of acute intermittent porphyria. Molecular therapy : the journal of the American Society of Gene Therapy, 2004, Volume: 10, Issue:2 Topics: Adenoviridae; Aminolevulinic Acid; Animals; Disease Models, Animal; Gene Expression; Genetic Therapy	2004
Fluorometric measurement of 5-aminolevulinic acid in serum. Clinica chimica acta; international journal of clinical chemistry, 2004, Volume: 347, Issue:1-2 Topics: Adult; Aged; Aminolevulinic Acid; Calibration; Chromatography, High Pressure Liquid; Coproporphyria,	2004
Inhibition of 5-aminolevulinic acid-induced DNA damage by melatonin, N1-acetyl-N2-formyl-5-methoxykynuramine, quercetin or resveratrol. Journal of pineal research, 2005, Volume: 38, Issue:2 Topics: Aminolevulinic Acid; Antioxidants; DNA; DNA Damage; Dose-Response Relationship, Drug; Electrophoresi	2005
Variations in porphobilinogen and 5-aminolevulinic acid concentrations in plasma and urine from asymptomatic carriers of the acute intermittent porphyria gene with increased porphyrin precursor excretion. Clinical chemistry, 2006, Volume: 52, Issue:4 Topics: Adult; Aminolevulinic Acid; Chromatography, High Pressure Liquid; Female; Heterozygote; Humans; Male	2006
Estimation and application of biological variation of urinary delta-aminolevulinic acid and porphobilinogen in healthy individuals and in patients with acute intermittent porphyria. Clinical chemistry, 2006, Volume: 52, Issue:4 Topics: Adult; Aminolevulinic Acid; Child; Female; Humans; Male; Middle Aged; Porphobilinogen; Porphyria, Ac	2006
Proteasomal degradation regulates expression of porphobilinogen deaminase (PBGD) mutants of acute intermittent porphyria. Biochimica et biophysica acta, 2006, Volume: 1762, Issue:9 Topics: Aminolevulinic Acid; Cell Line, Tumor; Cell Nucleus; Cysteine Proteinase Inhibitors; Cytoplasm; Gene	2006
Acute intermittent porphyria with peripheral neuropathy: a follow-up study after hematin treatment. Journal of the neurological sciences, 2007, Sep-15, Volume: 260, Issue:1-2 Topics: Adult; Aminolevulinic Acid; DNA Mutational Analysis; Female; Follow-Up Studies; Genetic Markers; Gen	2007
Safe usage of isotretinoin in a woman with latent acute intermittent porphyria. Acta dermato-venereologica, 2007, Volume: 87, Issue:3 Topics: Acne Vulgaris; Adult; Aminolevulinic Acid; Dermatologic Agents; Female; Humans; Isotretinoin; Porpho	2007
Metabolization of porphyrinogenic agents in brain: involvement of the phase I drug metabolizing system. A comparative study in liver and kidney. Cellular and molecular neurobiology, 2007, Volume: 27, Issue:6 Topics: Allylisopropylacetamide; Aminolevulinic Acid; Animals; Barbital; Brain; Cytochrome P-450 Enzyme Syst	2007
[Acute porphyrias: problem of primary diagnosis in Russia and CIS countries]. Terapevticheskii arkhiv, 2007, Volume: 79, Issue:8 Topics: Adolescent; Adult; Aminolevulinic Acid; Diagnosis, Differential; Female; Humans; Hydroxymethylbilane	2007
[Acute intermittent porphyria--report of 3 cases intercurrent with menstrual periods]. Zhonghua er ke za zhi = Chinese journal of pediatrics, 2007, Volume: 45, Issue:7 Topics: Adolescent; Aminolevulinic Acid; Female; Humans; Porphyria, Acute Intermittent	2007
Hemodialysis: a therapeutic option for severe attacks of acute intermittent porphyria in developing countries. Hemodialysis international. International Symposium on Home Hemodialysis, 2008, Volume: 12, Issue:1 Topics: Adolescent; Aminolevulinic Acid; Developing Countries; Female; Humans; India; Porphobilinogen; Porph	2008
Elevated porphyrins following propofol anaesthesia in acute intermittent porphyria. Anaesthesia, 1994, Volume: 49, Issue:11 Topics: Adult; Aminolevulinic Acid; Anesthesia, General; Humans; Male; Porphobilinogen; Porphyria, Acute Int	1994
5-Aminolevulinic acid mediates the in vivo and in vitro formation of 8-hydroxy-2'-deoxyguanosine in DNA. Carcinogenesis, 1994, Volume: 15, Issue:10 Topics: 8-Hydroxy-2'-Deoxyguanosine; Aminolevulinic Acid; Animals; Cattle; Deoxyguanosine; DNA; DNA Damage;	1994
Coexistence of hereditary coproporphyria with acute intermittent porphyria. Annals of medicine, 1994, Volume: 26, Issue:2 Topics: Adolescent; Adult; Aged; Aminolevulinic Acid; Child; Female; Humans; Male; Middle Aged; Pedigree; Po	1994
delta-Aminolevulinic acid effects on neuronal and glial tumor cell lines. Neurochemical research, 1993, Volume: 18, Issue:12 Topics: Aminolevulinic Acid; Cell Survival; Deferoxamine; Glioblastoma; Hemin; Humans; Nervous System Diseas	1993
5-Aminolevulinic acid induces single-strand breaks in plasmid pBR322 DNA in the presence of Fe2+ ions. Biochimica et biophysica acta, 1994, Feb-22, Volume: 1225, Issue:3 Topics: Aminolevulinic Acid; Antioxidants; DNA Damage; DNA, Circular; DNA, Single-Stranded; DNA, Superhelica	1994
Increased delta aminolevulinic acid and decreased pineal melatonin production. A common event in acute porphyria studies in the rat. The Journal of clinical investigation, 1996, Jan-01, Volume: 97, Issue:1 Topics: Acetylserotonin O-Methyltransferase; Adrenergic alpha-Agonists; Adrenergic beta-Agonists; Aminolevul	1996
Porphobilinogen deaminase deficiency in mice causes a neuropathy resembling that of human hepatic porphyria. Nature genetics, 1996, Volume: 12, Issue:2 Topics: Aminolevulinic Acid; Animals; Atrophy; Axons; Base Sequence; Chimera; Disease Models, Animal; Female	1996
Determination of 5-aminolaevulinic acid dehydratase activity in erythrocytes and porphobilinogen in urine by micellar electrokinetic capillary chromatography. Journal of chromatography. A, 1996, Jan-26, Volume: 722, Issue:1-2 Topics: Aminolevulinic Acid; Electrophoresis, Capillary; Erythrocytes; Humans; Hydrogen-Ion Concentration; L	1996
Molecular analysis of porphobilinogen (PBG) deaminase gene mutations in acute intermittent porphyria: first study in patients of Slavic origin. Scandinavian journal of clinical and laboratory investigation, 1997, Volume: 57, Issue:3 Topics: Aminolevulinic Acid; Czech Republic; Exons; Genetic Testing; Humans; Hydroxymethylbilane Synthase; I	1997
Effects of clonidine in a primed rat model of acute hepatic porphyria. Arzneimittel-Forschung, 1997, Volume: 47, Issue:6 Topics: 5-Aminolevulinate Synthetase; Allylisopropylacetamide; Aminolevulinic Acid; Aminopyrine N-Demethylas	1997
DNA alkylation by 4,5-dioxovaleric acid, the final oxidation product of 5-aminolevulinic acid. Chemical research in toxicology, 1998, Volume: 11, Issue:2 Topics: Alkylation; Aminolevulinic Acid; DNA Adducts; DNA Damage; Guanine; Humans; Liver Neoplasms; Mutagene	1998
5-Aminolevulinic acid dehydratase deficiency porphyria: a twenty-year clinical and biochemical follow-up. Clinical chemistry, 1998, Volume: 44, Issue:9 Topics: Adolescent; Aminolevulinic Acid; Arginine; Biomarkers; Erythrocytes; Follow-Up Studies; Glucose; Hem	1998
A splicing mutation in the hydroxymethylbilane synthase gene in a Japanese family with acute intermittent porphyria. Clinical biochemistry, 1999, Volume: 32, Issue:6 Topics: Adult; Aminolevulinic Acid; Child, Preschool; Deoxyribonucleases, Type II Site-Specific; Erythrocyte	1999
Zinc mesoporphyrin represses induced hepatic 5-aminolevulinic acid synthase and reduces heme oxygenase activity in a mouse model of acute hepatic porphyria. Hepatology (Baltimore, Md.), 2001, Volume: 33, Issue:5 Topics: 5-Aminolevulinate Synthetase; Acute Disease; Aminolevulinic Acid; Animals; Arginine; Cytosol; Drug C	2001
Molecular study of the hydroxymethylbilane synthase gene (HMBS) among Polish patients with acute intermittent porphyria. Human mutation, 2002, Volume: 19, Issue:3 Topics: Adult; Aminolevulinic Acid; Clinical Enzyme Tests; DNA; Female; Genetic Techniques; Humans; Hydroxym	2002
Is 5-aminolevulinic acid involved in the hepatocellular carcinogenesis of acute intermittent porphyria? Cellular and molecular biology (Noisy-le-Grand, France), 2002, Volume: 48, Issue:1 Topics: 8-Hydroxy-2'-Deoxyguanosine; Aminolevulinic Acid; Animals; Deoxyguanosine; DNA; DNA Damage; Liver Ne	2002
[Uroporphyrinogen-I-synthetase in erythrocytes in acute intermittent porphyria]. Acta biologica et medica Germanica, 1977, Volume: 36, Issue:5-6 Topics: Adolescent; Aminolevulinic Acid; Ammonia-Lyases; Bulgaria; Erythrocytes; Female; Humans; Hydroxymeth	1977
Frequency of low erythrocyte porphobilinogen deaminase activity in Finland. Journal of internal medicine, 1992, Volume: 231, Issue:4 Topics: Adult; Aminolevulinic Acid; Blood Donors; Erythrocytes; Female; Finland; Humans; Hydroxymethylbilane	1992