Description:
PORPHYRIA, ACUTE HEPATIC
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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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1
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Relation to Proband
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proband
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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 |
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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227. |
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| porphobilinogen synthase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 4.2.1.24; <2% activity. |
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| Remarks |
Homozygous; excessive excretion of delta-aminolevulinic acid & porphyrins; < 2% control RBC ALA-D activity; 22% of control cross-reactive immunologic material; repeated attacks of abdominal colics & motor neuropathy |
| Doss M, Benkmann HG, Goedde HW, delta-Aminolevulinic acid dehydrase (porphobilinogen synthase) in two families with inherited enzyme deficiency. Clin Genet30:191-8 1986 |
| PubMed ID: 3780034 |
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| de Verneuil H, Doss M, Brusco N, Beaumont C, Nordmann Y, Hereditary hepatic porphyria with delta aminolevulinate dehydrase deficiency: immunologic characterization of the non-catalytic enzyme. Hum Genet69:174-7 1985 |
| PubMed ID: 3882553 |
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