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ALAD deficiency porphyria
Introduction
Overview
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
References
- ↑ 1.0 1.1 Jaffe EK, Stith L (2007). “ALAD porphyria is a conformational disease”. American Journal of Human Genetics. 80 (2): 329–37. doi:10.1086/511444. PMC 1785348. PMID 17236137. Unknown parameter
|month=ignored (help) - ↑ Doss M, von Tiepermann R, Schneider J, Schmid H (1979). “New type of hepatic porphyria with porphobilinogen synthase defect and intermittent acute clinical manifestation”. Klinische Wochenschrift. 57 (20): 1123–7. PMID 513604. Unknown parameter
|month=ignored (help)