ALA dehydratase deficiency
| ALA dehydratase deficiency | |
| ICD-10 | E80.2 |
|---|---|
| ICD-9 | 277.1 |
| OMIM | 125270 |
Overview
ALA dehydratase deficiency (also called ALAD porphyria) is a rare cause of hepatic porphyria.[1][2] It is an autosomal recessive disorder that results from inappropriately low levels of the enzyme ALA dehydratase (ALAD, also called porphobilinogen synthase), which is required for normal heme synthesis.[1]
References
- ↑ 1.0 1.1 Jaffe EK, Stith L (February 2007). "ALAD porphyria is a conformational disease". American Journal of Human Genetics 80 (2): 329–37. doi:10.1086/511444. PMID 17236137.
- ↑ Doss M, von Tiepermann R, Schneider J, Schmid H (October 1979). "New type of hepatic porphyria with porphobilinogen synthase defect and intermittent acute clinical manifestation". Klinische Wochenschrift 57 (20): 1123–7. PMID 513604.
Heme metabolism disorders (E80, 277.1, 277.4) | |
|---|---|
| Porphyrin | Hepatic porphyria: Acute intermittent - Cutanea tarda/Hepatoerythropoietic - Hereditary copro- - Variegate Erythropoietic: Gunther's |
| Hereditary hyperbilirubinemia | Unconjugated: Lucey-Driscoll syndrome - Gilbert's syndrome - Crigler-Najjar syndrome Conjugated: Dubin-Johnson syndrome - Rotor syndrome |
| see also porphyrin metabolism enzymes, intermediates | |
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