creatine has been researched along with Amino Acid Metabolism Disorders, Inborn in 63 studies
| Excerpt | Relevance | Reference |
|---|---|---|
| "Cerebral creatine deficiency syndromes (CCDS) are a group of inborn errors of creatine metabolism that involve AGAT and GAMT for creatine biosynthesis disorders and SLC6A8 for creatine transporter (CT1) deficiency." | 7.79 | Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes. ( Comeaux, MS; Craigen, WJ; Kleppe, S; Renaud, D; Schmitt, ES; Sun, Q; Wang, G; Wang, J; Wong, LJ; Zhang, VW, 2013) |
| " Individuals with combined methylmalonic aciduria and homocystinuria have a functional impairment of the creatine synthetic pathway probably secondary to a relative depletion of labile methyl groups." | 7.73 | Creatine metabolism in combined methylmalonic aciduria and homocystinuria. ( Beaudet, AL; Bodamer, OA; Bottiglieri, T; O'Brien, WE; Sahoo, T; Scaglia, F; Stöckler-Ipsiroglu, S; Wagner, C, 2005) |
| "Two patients with neonatal onset of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome were studied at 4 and 2 1/2 yr of age, respectively." | 7.67 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: low creatine excretion and effect of citrulline, arginine, or ornithine supplement. ( Bachmann, C; Colombo, JP; Dionisi Vici, C; Gambarara, M; Sabetta, G, 1987) |
| "Epilepsy is one of the main symptoms in GAMT and CT1 deficiency, whereas the occurrence of febrile convulsions in infancy is a relatively common presenting symptom in all the three above-mentioned diseases." | 6.49 | Inborn errors of creatine metabolism and epilepsy. ( Battini, R; Cioni, G; Leuzzi, V; Mastrangelo, M, 2013) |
| "Although epilepsy was not affected by orally administered creatine (400 to 500 mg/kg per day), this treatment resulted in clinical improvement and an increase of creatine in cerebrospinal fluid and brain tissue." | 5.30 | Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism. ( Bachert, P; Bremer, HJ; De Deyn, PP; Hess, T; Knopp, MV; Marescau, B; Mayatepek, E; Rating, D; Schulze, A; Wevers, R, 1997) |
| "Creatine transporter deficiency was discovered in 2001 as an X-linked cause of intellectual disability characterized by cerebral creatine deficiency." | 4.90 | X-linked creatine transporter deficiency: clinical aspects and pathophysiology. ( Mancini, GM; Salomons, GS; van de Kamp, JM, 2014) |
| "l-arginine:glycine amidinotransferase (AGAT) and its metabolites homoarginine (hArg) and creatine have been linked to stroke pathology in both human and mouse studies." | 3.96 | Homoarginine- and Creatine-Dependent Gene Regulation in Murine Brains with l-Arginine:Glycine Amidinotransferase Deficiency. ( Arunachalam, P; Choe, CU; Gelderblom, M; Gerloff, C; Jensen, M; Magnus, T; Müller, C; Schwedhelm, E; Zeller, T, 2020) |
| "Cerebral creatine deficiency syndromes are neurometabolic conditions characterized by intellectual disability, seizures, speech delay, and behavioral abnormalities." | 3.85 | Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics. ( Bodamer, O; Longo, N; Sharer, JD; Tortorelli, S; Wamelink, MM; Young, S, 2017) |
| "Arginine:glycine amidinotransferase deficiency (AGAT-d) is a very rare inborn error of creatine synthesis mainly characterized by absence of brain Creatine (Cr) peak, intellectual disability, severe language impairment and behavioural disorder and susceptible to supplementary Cr treatment per os." | 3.85 | Fifteen-year follow-up of Italian families affected by arginine glycine amidinotransferase deficiency. ( Alessandrì, MG; Battini, R; Casalini, C; Casarano, M; Cioni, G; Tosetti, M, 2017) |
| "Cerebral creatine deficiency syndromes (CCDS) are a group of inborn errors of creatine metabolism that involve AGAT and GAMT for creatine biosynthesis disorders and SLC6A8 for creatine transporter (CT1) deficiency." | 3.79 | Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes. ( Comeaux, MS; Craigen, WJ; Kleppe, S; Renaud, D; Schmitt, ES; Sun, Q; Wang, G; Wang, J; Wong, LJ; Zhang, VW, 2013) |
| " Individuals with combined methylmalonic aciduria and homocystinuria have a functional impairment of the creatine synthetic pathway probably secondary to a relative depletion of labile methyl groups." | 3.73 | Creatine metabolism in combined methylmalonic aciduria and homocystinuria. ( Beaudet, AL; Bodamer, OA; Bottiglieri, T; O'Brien, WE; Sahoo, T; Scaglia, F; Stöckler-Ipsiroglu, S; Wagner, C, 2005) |
| "Two patients with neonatal onset of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome were studied at 4 and 2 1/2 yr of age, respectively." | 3.67 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: low creatine excretion and effect of citrulline, arginine, or ornithine supplement. ( Bachmann, C; Colombo, JP; Dionisi Vici, C; Gambarara, M; Sabetta, G, 1987) |
| " AGAT patients might benefit from oral GAA due to upgraded bioavailability and convenient utilization of the compound, while possible drawbacks (e." | 2.61 | Benefits and drawbacks of guanidinoacetic acid as a possible treatment to replenish cerebral creatine in AGAT deficiency. ( Ostojic, SM, 2019) |
| "Epilepsy is one of the main symptoms in GAMT and CT1 deficiency, whereas the occurrence of febrile convulsions in infancy is a relatively common presenting symptom in all the three above-mentioned diseases." | 2.49 | Inborn errors of creatine metabolism and epilepsy. ( Battini, R; Cioni, G; Leuzzi, V; Mastrangelo, M, 2013) |
| "Other symptoms include learning disorders, autistic behaviour, epileptic seizures, and movement disorders." | 2.46 | Guanidinoacetate methyltransferase deficiency (GAMT). ( Gordon, N, 2010) |
| "Treatment with creatine monohydrate (100-800 mg/kg/day) resulted in almost complete restoration of brain creatine levels and significant improvement of myopathy." | 1.42 | Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide. ( Apatean, D; Battini, R; DeBrosse, S; Dessoffy, K; Dowling, MD; Edvardson, S; Eichler, F; Johnston, K; Koeller, DM; Nouioua, S; Stockler-Ipsiroglu, S; Tazir, M; Verma, A; Wierenga, AM; Wierenga, KJ; Wong, LJ; Zhang, V, 2015) |
| "Creatine (Cr) plays an important role in muscle energy homeostasis by its participation in the ATP-phosphocreatine phosphoryl exchange reaction mediated by creatine kinase." | 1.39 | Disturbed energy metabolism and muscular dystrophy caused by pure creatine deficiency are reversible by creatine intake. ( Choe, CU; Heerschap, A; Isbrandt, D; Kan, HE; Kemp, GJ; Matschke, J; Nabuurs, CI; Rodenburg, RJ; van Loon, LJ; Veltien, A; Wieringa, B, 2013) |
| "The age of onset of seizures usually ranges from infancy to 3 years." | 1.35 | Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency. ( Abdenur, JE; Barshop, BA; Chen, E; Dhar, SU; Eng, CM; Haas, RH; Hunter, JV; Li, FY; Lotze, T; Maranda, B; O'Brien, W; Scaglia, F; Smith, L; Willis, M; Wong, LJ, 2009) |
| "In two female siblings with mental retardation who had brain creatine deficiency that was reversible by means of oral creatine supplementation and had low urinary guanidinoacetate concentrations, AGAT deficiency was identified as a new genetic defect in creatine metabolism." | 1.31 | Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans. ( Alessandrì, MG; Bianchi, MC; Cioni, G; Fornai, F; Item, CB; Mühl, A; Stöckler-Ipsiroglu, S; Stromberger, C; Tosetti, M, 2001) |
| " Creatine substitution by means of oral creatine monohydrate at high dosage (4-8 g per day) resulted in a striking improvement of the extrapyramidal movement disorder, normalisation of abnormal slow background activity in the EEG, and disappearance of bilateral abnormal signal intensities in the globus pallidus." | 1.30 | Guanidinoacetate methyltransferase deficiency: a newly recognized inborn error of creatine biosynthesis. ( Hanefeld, F; Stöckler, S, 1997) |
| "Although epilepsy was not affected by orally administered creatine (400 to 500 mg/kg per day), this treatment resulted in clinical improvement and an increase of creatine in cerebrospinal fluid and brain tissue." | 1.30 | Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism. ( Bachert, P; Bremer, HJ; De Deyn, PP; Hess, T; Knopp, MV; Marescau, B; Mayatepek, E; Rating, D; Schulze, A; Wevers, R, 1997) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 13 (20.63) | 18.7374 |
| 1990's | 6 (9.52) | 18.2507 |
| 2000's | 15 (23.81) | 29.6817 |
| 2010's | 20 (31.75) | 24.3611 |
| 2020's | 9 (14.29) | 2.80 |
| Authors | Studies |
|---|---|
| Moravej, H | 1 |
| Inaloo, S | 1 |
| Nahid, S | 1 |
| Mazloumi, S | 1 |
| Nemati, H | 1 |
| Moosavian, T | 1 |
| Nasiri, J | 1 |
| Ghasemi, F | 1 |
| Alaei, MR | 1 |
| Dalili, S | 1 |
| Aminzadeh, M | 1 |
| Katibeh, P | 1 |
| Amirhakimi, A | 1 |
| Yazdani, N | 1 |
| Ilkhanipoor, H | 1 |
| Afshar, Z | 1 |
| Hadipour, F | 1 |
| Hadipour, Z | 1 |
| Zhang, Y | 1 |
| Ding, Y | 1 |
| Li, Y | 1 |
| Zhou, S | 1 |
| Balestrino, M | 1 |
| Adriano, E | 1 |
| Kirby, T | 1 |
| Walters, DC | 1 |
| Brown, M | 1 |
| Jansen, E | 1 |
| Salomons, GS | 7 |
| Turgeon, C | 1 |
| Rinaldo, P | 1 |
| Arning, E | 1 |
| Ashcraft, P | 1 |
| Bottiglieri, T | 2 |
| Roullet, JB | 1 |
| Gibson, KM | 1 |
| Jensen, M | 1 |
| Müller, C | 1 |
| Schwedhelm, E | 2 |
| Arunachalam, P | 1 |
| Gelderblom, M | 1 |
| Magnus, T | 1 |
| Gerloff, C | 2 |
| Zeller, T | 1 |
| Choe, CU | 3 |
| Neu, A | 1 |
| Hornig, S | 1 |
| Sasani, A | 1 |
| Isbrandt, D | 3 |
| Tsikas, D | 1 |
| Alessandrì, MG | 3 |
| Strigini, F | 1 |
| Cioni, G | 4 |
| Battini, R | 4 |
| Branovets, J | 1 |
| Karro, N | 1 |
| Barsunova, K | 1 |
| Laasmaa, M | 1 |
| Lygate, CA | 1 |
| Vendelin, M | 1 |
| Birkedal, R | 1 |
| Gonzalez Melo, M | 1 |
| Remacle, N | 1 |
| Cudré-Cung, HP | 1 |
| Roux, C | 1 |
| Poms, M | 1 |
| Cudalbu, C | 1 |
| Barroso, M | 1 |
| Gersting, SW | 1 |
| Feichtinger, RG | 1 |
| Mayr, JA | 1 |
| Costanzo, M | 1 |
| Caterino, M | 1 |
| Ruoppolo, M | 1 |
| Rüfenacht, V | 1 |
| Häberle, J | 1 |
| Braissant, O | 3 |
| Ballhausen, D | 1 |
| Ostojic, SM | 1 |
| Comeaux, MS | 1 |
| Wang, J | 1 |
| Wang, G | 1 |
| Kleppe, S | 1 |
| Zhang, VW | 1 |
| Schmitt, ES | 1 |
| Craigen, WJ | 1 |
| Renaud, D | 1 |
| Sun, Q | 1 |
| Wong, LJ | 3 |
| Nouioua, S | 2 |
| Cheillan, D | 3 |
| Zaouidi, S | 1 |
| Amedjout, N | 1 |
| Kessaci, F | 1 |
| Boulahdour, N | 1 |
| Hamadouche, T | 1 |
| Tazir, M | 2 |
| Joncquel-Chevalier Curt, M | 3 |
| Briand, G | 2 |
| Mention-Mulliez, K | 2 |
| Dobbelaere, D | 2 |
| Cuisset, JM | 1 |
| Lion-François, L | 1 |
| Des Portes, V | 1 |
| Chabli, A | 1 |
| Valayannopoulos, V | 1 |
| Benoist, JF | 1 |
| Pinard, JM | 1 |
| Simard, G | 1 |
| Douay, O | 1 |
| Deiva, K | 1 |
| Tardieu, M | 1 |
| Afenjar, A | 1 |
| Héron, D | 1 |
| Rivier, F | 1 |
| Chabrol, B | 1 |
| Prieur, F | 1 |
| Cartault, F | 1 |
| Pitelet, G | 1 |
| Goldenberg, A | 1 |
| Bekri, S | 1 |
| Gerard, M | 1 |
| Delorme, R | 1 |
| Porchet, N | 2 |
| Vianey-Saban, C | 1 |
| Vamecq, J | 2 |
| van de Kamp, JM | 1 |
| Mancini, GM | 1 |
| Tran, C | 1 |
| Yazdanpanah, M | 1 |
| Kyriakopoulou, L | 1 |
| Levandovskiy, V | 1 |
| Zahid, H | 1 |
| Naufer, A | 1 |
| Schulze, A | 3 |
| Clark, JF | 1 |
| Cecil, KM | 1 |
| Stockler-Ipsiroglu, S | 4 |
| Apatean, D | 1 |
| DeBrosse, S | 1 |
| Dessoffy, K | 1 |
| Edvardson, S | 1 |
| Eichler, F | 1 |
| Johnston, K | 1 |
| Koeller, DM | 1 |
| Verma, A | 1 |
| Dowling, MD | 1 |
| Wierenga, KJ | 1 |
| Wierenga, AM | 1 |
| Zhang, V | 1 |
| Voicu, PM | 1 |
| Fontaine, M | 1 |
| Dessein, AF | 1 |
| Soto-Ares, G | 1 |
| Hanna-El-Daher, L | 1 |
| Motzek, A | 1 |
| Knežević, J | 1 |
| Switzeny, OJ | 1 |
| Cooper, A | 1 |
| Barić, I | 1 |
| Beluzić, R | 1 |
| Strauss, KA | 1 |
| Puffenberger, EG | 1 |
| Mudd, SH | 1 |
| Vugrek, O | 1 |
| Zechner, U | 1 |
| Sharer, JD | 1 |
| Bodamer, O | 1 |
| Longo, N | 1 |
| Tortorelli, S | 1 |
| Wamelink, MM | 1 |
| Young, S | 1 |
| Casalini, C | 1 |
| Casarano, M | 1 |
| Tosetti, M | 2 |
| Coman, D | 1 |
| Yaplito-Lee, J | 1 |
| Boneh, A | 1 |
| Dhar, SU | 1 |
| Scaglia, F | 2 |
| Li, FY | 1 |
| Smith, L | 1 |
| Barshop, BA | 1 |
| Eng, CM | 1 |
| Haas, RH | 1 |
| Hunter, JV | 1 |
| Lotze, T | 1 |
| Maranda, B | 1 |
| Willis, M | 1 |
| Abdenur, JE | 1 |
| Chen, E | 1 |
| O'Brien, W | 1 |
| Pérez-Dueñas, B | 1 |
| De La Osa, A | 1 |
| Capdevila, A | 1 |
| Navarro-Sastre, A | 1 |
| Leist, A | 1 |
| Ribes, A | 3 |
| García-Cazorla, A | 1 |
| Serrano, M | 1 |
| Pineda, M | 2 |
| Campistol, J | 2 |
| Gordon, N | 1 |
| Younessi, D | 1 |
| Moseley, K | 1 |
| Yano, S | 1 |
| Fons, C | 1 |
| Sempere, A | 1 |
| Sanmartí, FX | 1 |
| Arias, A | 2 |
| Póo, P | 1 |
| Merinero, B | 1 |
| Vilaseca, MA | 1 |
| Artuch, R | 1 |
| Nasrallah, F | 2 |
| Feki, M | 2 |
| Kaabachi, N | 2 |
| Andrade, VS | 1 |
| Rojas, DB | 1 |
| Oliveira, L | 1 |
| Nunes, ML | 1 |
| de Castro, FL | 1 |
| Garcia, C | 1 |
| Gemelli, T | 1 |
| de Andrade, RB | 1 |
| Wannmacher, CM | 1 |
| Kraoua, I | 1 |
| Bout, MA | 1 |
| Taieb, SH | 1 |
| Khouja, N | 1 |
| Nabuurs, CI | 1 |
| Veltien, A | 1 |
| Kan, HE | 1 |
| van Loon, LJ | 1 |
| Rodenburg, RJ | 1 |
| Matschke, J | 1 |
| Wieringa, B | 1 |
| Kemp, GJ | 1 |
| Heerschap, A | 1 |
| Leuzzi, V | 1 |
| Mastrangelo, M | 1 |
| Snow, RJ | 1 |
| MUKERJEE, SS | 1 |
| SARKAR, AK | 1 |
| MUKHERJEE, SK | 1 |
| BLAGOSLOVENSKII, GS | 1 |
| CONSTANTSAS, NS | 1 |
| DANELATOU-ATHANASSIADOU, C | 1 |
| HAMBRAEUS, L | 1 |
| DEHEVESY, G | 1 |
| STAMBAUGH, R | 1 |
| DAVIDSON, DT | 1 |
| Almeida, LS | 2 |
| Verhoeven, NM | 4 |
| Roos, B | 1 |
| Valongo, C | 1 |
| Cardoso, ML | 1 |
| Vilarinho, L | 2 |
| Jakobs, C | 4 |
| Garcia-Villoria, J | 1 |
| Sykut-Cegielska, J | 1 |
| Gradowska, W | 1 |
| Mercimek-Mahmutoglu, S | 1 |
| Bodamer, OA | 1 |
| Sahoo, T | 1 |
| Beaudet, AL | 1 |
| O'Brien, WE | 1 |
| Wagner, C | 1 |
| van Spronsen, FJ | 1 |
| Reijngoud, DJ | 1 |
| Soorani-Lunsing, RJ | 1 |
| Sijens, PE | 1 |
| Rosenberg, EH | 1 |
| Martinez-Muñoz, C | 1 |
| Firat, AK | 1 |
| Karakas, HM | 1 |
| Yakinci, C | 1 |
| Henry, H | 1 |
| Stöckler, S | 2 |
| Hanefeld, F | 2 |
| Marescau, B | 2 |
| De Deyn, PP | 2 |
| Trijbels, JM | 1 |
| Ganesan, V | 1 |
| Johnson, A | 1 |
| Connelly, A | 1 |
| Eckhardt, S | 1 |
| Surtees, RA | 1 |
| Hess, T | 1 |
| Wevers, R | 1 |
| Mayatepek, E | 2 |
| Bachert, P | 1 |
| Knopp, MV | 1 |
| Bremer, HJ | 1 |
| Rating, D | 2 |
| van der Knaap, MS | 2 |
| Bakker, HD | 1 |
| Valk, J | 1 |
| Struys, EA | 1 |
| Jansen, EE | 1 |
| ten Brink, HJ | 1 |
| Item, CB | 1 |
| Stromberger, C | 1 |
| Mühl, A | 1 |
| Bianchi, MC | 1 |
| Fornai, F | 1 |
| Ebinger, F | 1 |
| Perry, TL | 1 |
| Hansen, S | 1 |
| Booth, FA | 1 |
| Penn, AM | 1 |
| Jones, K | 1 |
| Dilling, LA | 1 |
| Dionisi Vici, C | 1 |
| Bachmann, C | 1 |
| Gambarara, M | 1 |
| Colombo, JP | 1 |
| Sabetta, G | 1 |
| Iles, RA | 1 |
| Chalmers, RA | 1 |
| Hind, AJ | 1 |
| Hatano, H | 1 |
| Ohkido, M | 1 |
| Matsuo, I | 1 |
| Arai, R | 1 |
| Mamiya, G | 1 |
| Kennaway, NG | 1 |
| Buist, NR | 1 |
| Fellman, JH | 1 |
| Emery, AE | 1 |
| Burt, D | 1 |
| Wadman, SK | 1 |
| De Bree, PK | 1 |
| Van der Heiden, C | 1 |
| Van Sprang, FJ | 1 |
| Gusev, EI | 1 |
| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| The Effect of Creatine Monohydrate on Persistent Post-concussive Symptoms - a Pilot Study Protocol[NCT05562232] | 45 participants (Anticipated) | Interventional | 2022-10-01 | Not yet recruiting | |||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
11 reviews available for creatine and Amino Acid Metabolism Disorders, Inborn
| Article | Year |
|---|---|
Benefits and drawbacks of guanidinoacetic acid as a possible treatment to replenish cerebral creatine in AGAT deficiency.
Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Clinical Trials as Topic; Creatine; Devel | 2019 |
X-linked creatine transporter deficiency: clinical aspects and pathophysiology.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Brain Diseases, Metabolic, Inborn; Creatine; Genetic | 2014 |
Diagnostic methods and recommendations for the cerebral creatine deficiency syndromes.
Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Brain Diseases, Metabolic, Inborn; Creati | 2015 |
Creatine biosynthesis and transport in health and disease.
Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Amino Acid Transport Systems, Basic; AMP- | 2015 |
Creatine synthesis and exchanges between brain cells: What can be learned from human creatine deficiencies and various experimental models?
Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Animals; Blood-Brain Barrier; Brain Disea | 2016 |
New indications and controversies in arginine therapy.
Topics: Acidosis, Lactic; Amino Acid Metabolism, Inborn Errors; Arginine; Central Nervous System; Creatine; | 2008 |
Guanidinoacetate methyltransferase deficiency (GAMT).
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Creatine; Diagnosis, Differential; Diet, Protein-Res | 2010 |
Creatine and creatine deficiency syndromes: biochemical and clinical aspects.
Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Autistic Disorder; Child; Creatine; Epile | 2010 |
Inborn errors of creatine metabolism and epilepsy.
Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Animals; Brain Diseases, Metabolic, Inbor | 2013 |
Biochemical and clinical characteristics of creatine deficiency syndromes.
Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Creatine; Guanidinoacetate N-Methyltransf | 2004 |
AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes: a review.
Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Animals; Brain; Creatine; Developmental D | 2008 |
1 trial available for creatine and Amino Acid Metabolism Disorders, Inborn
| Article | Year |
|---|---|
Abnormal Hypermethylation at Imprinting Control Regions in Patients with S-Adenosylhomocysteine Hydrolase (AHCY) Deficiency.
Topics: Alu Elements; Amino Acid Metabolism, Inborn Errors; Creatine; DNA Methylation; Female; Genomic Impri | 2016 |
51 other studies available for creatine and Amino Acid Metabolism Disorders, Inborn
| Article | Year |
|---|---|
Inborn Errors of Metabolism Associated With Autism Among Children: A Multicenter Study from Iran.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Autism Spectrum Disorder; Autistic Di | 2023 |
[Clinical and genetic analysis of a child with Cerebral creatine deficiency syndrome due to variant of SLC6A8 gene].
Topics: Amino Acid Metabolism, Inborn Errors; Brain; Creatine; Heterozygote; Humans; Infant; Male; Mothers; | 2023 |
Presence of guanidinoacetate may compensate creatine absence and account for less statin-induced muscle damage in GAMT-deficient compared to AGAT-deficient mice.
Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Animals; Creatine; Developmental Disabili | 2020 |
Post-mortem tissue analyses in a patient with succinic semialdehyde dehydrogenase deficiency (SSADHD). I. Metabolomic outcomes.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Brain; Carnitine; Creatine; Creatinine; De | 2020 |
Homoarginine- and Creatine-Dependent Gene Regulation in Murine Brains with l-Arginine:Glycine Amidinotransferase Deficiency.
Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Animals; Arginine; Brain; Creatine; Devel | 2020 |
Creatine, guanidinoacetate and homoarginine in statin-induced myopathy.
Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Animals; Creatine; Developmental Disabili | 2020 |
Increased creatine demand during pregnancy in Arginine: Glycine Amidino-Transferase deficiency: a case report.
Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Creatine; Developmental Disabilities; Fem | 2020 |
Cardiac expression and location of hexokinase changes in a mouse model of pure creatine deficiency.
Topics: Adenosine Diphosphate; Adenylate Kinase; Amidinotransferases; Amino Acid Metabolism, Inborn Errors; | 2021 |
The first knock-in rat model for glutaric aciduria type I allows further insights into pathophysiology in brain and periphery.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Arginine; Brain; Brain Diseases, Metabolic; Creatine; | 2021 |
Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes.
Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Brain Diseases, Metabolic, Inborn; Creati | 2013 |
Creatine deficiency syndrome. A treatable myopathy due to arginine-glycine amidinotransferase (AGAT) deficiency.
Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Brain; Child; Creatine; Developmental Dis | 2013 |
Creatine and guanidinoacetate reference values in a French population.
Topics: Adolescent; Adult; Age Factors; Aged; Aged, 80 and over; Amino Acid Metabolism, Inborn Errors; Case- | 2013 |
Stable isotope dilution microquantification of creatine metabolites in plasma, whole blood and dried blood spots for pharmacological studies in mouse models of creatine deficiency.
Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Animals; Chromatography, Liquid; Creatine | 2014 |
Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide.
Topics: Adolescent; Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Crea | 2015 |
Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics.
Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Brain Diseases, Metabolic, Inborn; Clinic | 2017 |
Fifteen-year follow-up of Italian families affected by arginine glycine amidinotransferase deficiency.
Topics: Adolescent; Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Crea | 2017 |
Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Creatine; Female; Guanidi | 2009 |
Brain injury in glutaric aciduria type I: the value of functional techniques in magnetic resonance imaging.
Topics: Amino Acid Metabolism, Inborn Errors; Aspartic Acid; Brain; Brain Injuries; Brain Mapping; Creatine; | 2009 |
Creatine metabolism in combined methylmalonic aciduria and homocystinuria disease revisited.
Topics: Amino Acid Metabolism, Inborn Errors; Creatine; Homocystinuria; Humans; Methylmalonic Acid | 2009 |
Epilepsy spectrum in cerebral creatine transporter deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Brain; Child, Preschool; Creatine; Electroencephalography; Epi | 2009 |
Creatine and pyruvate prevent behavioral and oxidative stress alterations caused by hypertryptophanemia in rats.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Behavior, Animal; Creatine; Male; Oxidative Stress; P | 2012 |
Guanidinoacetate methyltransferase (GAMT) deficiency in two Tunisian siblings: clinical and biochemical features.
Topics: Abnormalities, Multiple; Adolescent; Amino Acid Metabolism, Inborn Errors; Child; Chromatography, Hi | 2012 |
Disturbed energy metabolism and muscular dystrophy caused by pure creatine deficiency are reversible by creatine intake.
Topics: Adenosine Triphosphate; Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Animals; Creatine | 2013 |
AGAT knockout mice provide an opportunity to titrate tissue creatine content.
Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Animals; Creatine; Developmental Disabili | 2013 |
STUDIES IN EXPERIMENTAL OBESITY. II. OBSERVATIONS ON NITROGEN BALANCE, URINARY EXCRETION OF CREATININE AND CREATINE AND TISSUE AMINO-ACIDS IN OBESE RATS.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Blood; Creatine; Creatinine; Digestion; Liver; Ni | 1963 |
[MODIFIED METHOD OF DETERMINING CREATININE IN THE BLOOD SERUM AND URINE].
Topics: Amino Acid Metabolism, Inborn Errors; Blood Chemical Analysis; Body Fluids; Creatine; Creatinine; Hu | 1963 |
EXCRETION OF AMINO ACIDS IN CHILDHOOD. A RELIABLE METHOD FOR THE DETERMINATION OF AMINO ACID NITROGEN IN URINE.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Body Fluids; Child; Collagen | 1964 |
CYSTINURIA IN SWEDEN. VIII. A CASE OF COELIAC DISEASE ASSOCIATED WITH CYSTINE-LYSINURIA.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Ataxia; Celiac Disease; Chromatography; Creatine; Cr | 1964 |
EVALUATION OF THE AMINO ACID EXCRETION PATTERN OF MENTAL RETARDATES AS A SCREENING TECHNIQUE FOR INBORN ERRORS OF METABOLISM.
Topics: Adolescent; Alanine; Amino Acid Metabolism, Inborn Errors; Child; Chromatography; Creatine; Creatini | 1964 |
Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport.
Topics: Adolescent; Adult; Age Factors; Aged; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; | 2004 |
Guanidinoacetate and creatine/creatinine levels in controls and patients with urea cycle defects.
Topics: Age Factors; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Creatine; Gas Chromatogr | 2004 |
Creatine metabolism in combined methylmalonic aciduria and homocystinuria.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Creatine; Female; Glycine; Hom | 2005 |
High cerebral guanidinoacetate and variable creatine concentrations in argininosuccinate synthetase and lyase deficiency: implications for treatment?
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinate Synthase; Argininosuccinic Aciduri | 2006 |
Overexpression of GAMT restores GAMT activity in primary GAMT-deficient fibroblasts.
Topics: Amino Acid Metabolism, Inborn Errors; Creatine; Fibroblasts; Guanidinoacetate N-Methyltransferase; H | 2006 |
Magnetic resonance spectroscopic characteristics of glutaric aciduria type II.
Topics: Amino Acid Metabolism, Inborn Errors; Aspartic Acid; Child; Choline; Creatine; Female; Glutarates; H | 2006 |
Guanidinoacetate methyltransferase deficiency: a newly recognized inborn error of creatine biosynthesis.
Topics: Amino Acid Metabolism, Inborn Errors; Basal Ganglia Diseases; Creatine; Creatinine; Guanidinoacetate | 1997 |
Guanidino compounds in guanidinoacetate methyltransferase deficiency, a new inborn error of creatine synthesis.
Topics: Administration, Oral; Amino Acid Metabolism, Inborn Errors; Creatine; Creatinine; Guanidines; Guanid | 1997 |
Guanidinoacetate methyltransferase deficiency: new clinical features.
Topics: Amino Acid Metabolism, Inborn Errors; Basal Ganglia; Child, Preschool; Creatine; Follow-Up Studies; | 1997 |
Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Brain; Cells, Cultured; Child, Preschool; Creatine; Creatinine | 1997 |
MR imaging and proton spectroscopy in 3-hydroxy-3-methylglutaryl coenzyme A lyase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Aspartic Acid; Atrophy; Brain; Brain Diseases, Metabolic; Chil | 1998 |
An accurate stable isotope dilution gas chromatographic-mass spectrometric approach to the diagnosis of guanidinoacetate methyltransferase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Creatine; Gas Chromatography-Mass Spectrometry; Glycine | 1998 |
Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans.
Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Base Sequence; Brain | 2001 |
Improving treatment of guanidinoacetate methyltransferase deficiency: reduction of guanidinoacetic acid in body fluids by arginine restriction and ornithine supplementation.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Child; Child, Preschool; Creatine; Dietary Supplemen | 2001 |
An unusual aminoacidopathy associated with mitochondrial encephalomyopathy.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Central Nervous Syst | 1989 |
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: low creatine excretion and effect of citrulline, arginine, or ornithine supplement.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Child, Preschool; Citrulline; Creatine; Fem | 1987 |
Methylmalonic aciduria and propionic acidaemia studied by proton nuclear magnetic resonance spectroscopy.
Topics: Amino Acid Metabolism, Inborn Errors; Betaine; Creatine; Female; Gas Chromatography-Mass Spectrometr | 1986 |
Aminoaciduria in xeroderma pigmentosum.
Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Amino Acid Metabolism, Inborn Errors; Autoanalysis; Biol | 1968 |
The origin of urinary p-hydroxyphenylpyruvate in a patient with hepatic cytosol tyrosine aminotransferase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Creatine; Creatinine; Cytoplasm; Humans; Imidazoles; Liver; Ph | 1972 |
Amino acid, creatine and creatinine studies in myotonic dystrophy.
Topics: Adult; Age Factors; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Creatine; Creatin | 1972 |
Automatic column chromatographic analysis of urinary and serum imidazoles in patients with histidinaemia and normals.
Topics: Acetates; Acrylates; Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Autoanalysis; Buffers; | 1971 |
[Hyperaminoaciduria in children suffering from progressive muscular dystrophy].
Topics: Adolescent; Alanine; Amino Acid Metabolism, Inborn Errors; Arginine; Aspartic Acid; Child; Child, Pr | 1967 |