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aminolevulinic acid and Protoporphyria, Erythropoietic

aminolevulinic acid has been researched along with Protoporphyria, Erythropoietic in 10 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.

Protoporphyria, Erythropoietic: An autosomal dominant porphyria that is due to a deficiency of FERROCHELATASE (heme synthetase) in both the LIVER and the BONE MARROW, the last enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include mainly neurological symptoms, rarely cutaneous lesions, and elevated levels of protoporphyrin and COPROPORPHYRINS in the feces.

Research Excerpts

ExcerptRelevanceReference
" These findings suggest that the amount of protoporphyrin IX accumulation from ALA reflects the extent of deficiency of ferrochelatase and is proportional to the dosage of abnormal EPP gene in cultured fibroblasts."5.26Accumulation of protoporphyrin IX from delta-aminolevulinic acid in bovine skin fibroblasts with hereditary erythropoietic protoporphyria. A gene-dosage effect. ( Ruth, G; Sassa, S; Schwartz, S, 1981)
"Fibroblasts from cattle homozygous for erythropoietic protoporphyria (EPP) and with the clinical symptoms of the disease accumulated approximately sixfold greater amounts of protoporphyrin IX than cells from normal control animals."5.26Accumulation of protoporphyrin IX from delta-aminolevulinic acid in bovine skin fibroblasts with hereditary erythropoietic protoporphyria. A gene-dosage effect. ( Ruth, G; Sassa, S; Schwartz, S, 1981)
"In this paper we show that the ferrochelatase defect in erythropoietic protoporphyria (EPP) can readily be identified in mitogen-stimulated lymphocytes since such cells from patients with EPP accumulate approximately twice as much protoporphyrin IX as cells from normal subjects when incubated with a porphyrin precursor, gamma-aminolevulinic acid (ALA)."3.66Studies in porphyria: functional evidence for a partial deficiency of ferrochelatase activity in mitogen-stimulated lymphocytes from patients with erythropoietic protoporphyria. ( Anderson, KE; Kappas, A; Poh-Fitzpatrick, MB; Sassa, S; Zalar, GL, 1982)
" These findings suggest that the amount of protoporphyrin IX accumulation from ALA reflects the extent of deficiency of ferrochelatase and is proportional to the dosage of abnormal EPP gene in cultured fibroblasts."1.26Accumulation of protoporphyrin IX from delta-aminolevulinic acid in bovine skin fibroblasts with hereditary erythropoietic protoporphyria. A gene-dosage effect. ( Ruth, G; Sassa, S; Schwartz, S, 1981)
"Fibroblasts from cattle homozygous for erythropoietic protoporphyria (EPP) and with the clinical symptoms of the disease accumulated approximately sixfold greater amounts of protoporphyrin IX than cells from normal control animals."1.26Accumulation of protoporphyrin IX from delta-aminolevulinic acid in bovine skin fibroblasts with hereditary erythropoietic protoporphyria. A gene-dosage effect. ( Ruth, G; Sassa, S; Schwartz, S, 1981)

Research

Studies (10)

TimeframeStudies, this research(%)All Research%
pre-19905 (50.00)18.7374
1990's1 (10.00)18.2507
2000's2 (20.00)29.6817
2010's2 (20.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Fratz, EJ1
Clayton, J1
Hunter, GA1
Ducamp, S1
Breydo, L1
Uversky, VN1
Deybach, JC1
Gouya, L1
Puy, H1
Ferreira, GC1
Elenbaas, JS1
Maitra, D1
Liu, Y1
Lentz, SI1
Nelson, B1
Hoenerhoff, MJ1
Shavit, JA1
Omary, MB1
Pischik, E1
Kauppinen, R1
Sassa, S3
Schwartz, S1
Ruth, G1
Zalar, GL2
Poh-Fitzpatrick, MB2
Anderson, KE1
Kappas, A2
Romeo, G1
Nakayashiki, T1
Inokuchi, H1
Moretti, MB1
Garcia, SC1
Batlle, A1
Chan, KM1
Ladenson, JH1
Vaidya, HC1
Kanan, R1

Reviews

1 review available for aminolevulinic acid and Protoporphyria, Erythropoietic

ArticleYear
The hepatic porphyrias.
    Progress in medical genetics, 1980, Volume: 4

    Topics: 5-Aminolevulinate Synthetase; Acute Disease; Adolescent; Adult; Aminolevulinic Acid; Chemical Phenom

1980

Other Studies

9 other studies available for aminolevulinic acid and Protoporphyria, Erythropoietic

ArticleYear
Human Erythroid 5-Aminolevulinate Synthase Mutations Associated with X-Linked Protoporphyria Disrupt the Conformational Equilibrium and Enhance Product Release.
    Biochemistry, 2015, Sep-15, Volume: 54, Issue:36

    Topics: 5-Aminolevulinate Synthetase; Aminolevulinic Acid; Enzyme Stability; Escherichia coli; Genetic Disea

2015
A precursor-inducible zebrafish model of acute protoporphyria with hepatic protein aggregation and multiorganelle stress.
    FASEB journal : official publication of the Federation of American Societies for Experimental Biology, 2016, Volume: 30, Issue:5

    Topics: Aminolevulinic Acid; Animals; Deferoxamine; Disease Models, Animal; Genetic Predisposition to Diseas

2016
Lead poisoning from the beauty case: neurologic manifestations in an elderly woman.
    Neurology, 2008, Jul-22, Volume: 71, Issue:4

    Topics: Aged; Aminolevulinic Acid; Anemia, Macrocytic; Causality; Diagnostic Errors; Erythrocytes; Female; H

2008
Accumulation of protoporphyrin IX from delta-aminolevulinic acid in bovine skin fibroblasts with hereditary erythropoietic protoporphyria. A gene-dosage effect.
    The Journal of experimental medicine, 1981, May-01, Volume: 153, Issue:5

    Topics: Aminolevulinic Acid; Animals; Cattle; Edetic Acid; Erythropoiesis; Fibroblasts; Iron; Levulinic Acid

1981
Studies in porphyria: functional evidence for a partial deficiency of ferrochelatase activity in mitogen-stimulated lymphocytes from patients with erythropoietic protoporphyria.
    The Journal of clinical investigation, 1982, Volume: 69, Issue:4

    Topics: Adolescent; Adult; Aminolevulinic Acid; Cells, Cultured; Child; Edetic Acid; Female; Genetic Carrier

1982
Effects of starvation for heme on the synthesis of porphyrins in Escherichia coli.
    Molecular & general genetics : MGG, 1997, Volume: 255, Issue:4

    Topics: Aldehyde Oxidoreductases; Aminolevulinic Acid; Butanols; Escherichia coli; Gene Expression Regulatio

1997
Porphyrin biosynthesis intermediates are not regulating delta-aminolevulinic acid transport in Saccharomyces cerevisiae.
    Biochemical and biophysical research communications, 2000, Jun-16, Volume: 272, Issue:3

    Topics: 5-Aminolevulinate Synthetase; Aminolevulinic Acid; Biological Transport; Ferrochelatase; GABA Plasma

2000
Studies in porphyria IX: Detection of the gene defect of erythropoietic protoporphyria in mitogen-stimulated human lymphocytes.
    Transactions of the Association of American Physicians, 1979, Volume: 92

    Topics: Adolescent; Adult; Aminolevulinic Acid; Cells, Cultured; Female; Heterozygote; Humans; Lymphocyte Ac

1979
Washington University case conference. Dual porphyria--an underdiagnosed entity?
    Clinical chemistry, 1987, Volume: 33, Issue:7

    Topics: Aminolevulinic Acid; Coproporphyrins; Diagnosis, Differential; Feces; Flavoproteins; Humans; Male; M

1987