Description:
PORPHYRIA CUTANEA TARDA
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
DNA from LCL
|
|
Race
|
White
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Biochemical characterization - other
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227. |
| |
| uroporphyrinogen decarboxylase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 4.1.1.37; 3% activity. |
| |
| uroporphyrinogen decarboxylase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 4.1.1.37; 27% activity. |
| |
| Remarks |
Mild clinical symptoms; skin fragility and photosensitivity manifest at age 6; 3 unaffected children; elevated urinary porphyrins; elevated stool and urine isocoproporphyrin; 27% of RBC & 3% of lymphoid normal UROD activity; 5% of normal UROD RBC protein |
| 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 |
|
|