Description:
PORPHYRIA, CONGENITAL ERYTHROPOIETIC
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Repository
|
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
|
Epstein-Barr Virus
|
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Sample Source
|
DNA from LCL
|
|
Race
|
White
|
|
Ethnicity
|
JEWISH
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
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|
Species
|
Homo sapiens
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|
Common Name
|
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-III synthase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 4.2.1.75; 4-10% activity. |
| |
| Remarks |
Hemolytic anemia; splenomegaly; skin photosensitivity; marked cutaneous scarring and deformity; porphyrinuria; erythrodontia; hypertrichosis; 4-10% of normal erythrocyte uroporphyrinogen III synthase activity |
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