ALA dehydratase deficiency

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ALA dehydratase deficiency
ICD-10 E80.2
ICD-9 277.1
OMIM 125270

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ALA dehydratase deficiency

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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. 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.
  2. 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.



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