Description:
PORPHYRIA CUTANEA TARDA
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Family Member
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6
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Relation to Proband
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son
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| uroporphyrinogen decarboxylase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 4.1.1.37 |
| |
| Remarks |
Clinically asymptomatic; carrier level of uroporphyrinogen decarboxylase activity in RBC; son of GM08668 |
| Rose S, Bennuri SC, Davis JE, Wynne R, Slattery JC, Tippett M, Delhey L, Melnyk S, Kahler SG, MacFabe DF, Frye RE, Butyrate enhances mitochondrial function during oxidative stress in cell lines from boys with autism Translational psychiatry8:42 2017 |
| PubMed ID: 29391397 |
| |
| Rose S, Frye RE, Slattery J, Wynne R, Tippett M, Pavliv O, Melnyk S, James SJ, Oxidative stress induces mitochondrial dysfunction in a subset of autism lymphoblastoid cell lines in a well-matched case control cohort PloS one9:e85436 2013 |
| PubMed ID: 24416410 |
| |
| Fujita H, Sassa S, Toback AC, Kappas A, Immunochemical study of uroporphyrinogen decarboxylase in a patient with mild hepatoerythropoietic porphyria. J Clin Invest79:1533-7 1987 |
| PubMed ID: 3571497 |
| |
| Toback AC, Sassa S, Poh-Fitzpatrick MB, Schechter J, Zaider E, Harber LC, Kappas A, Hepatoerythropoietic porphyria: clinical, biochemical, and enzymatic studies in a three-generation family lineage. N Engl J Med316:645-50 1987 |
| PubMed ID: 3821794 |
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