ALA dehydratase deficiency: Difference between revisions
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==Overview== | ==Overview== | ||
'''ALA dehydratase deficiency''' (also called '''ALAD porphyria''') is a rare cause of [[hepatic porphyria]].<ref name="jaffe">{{cite journal |author=Jaffe EK, Stith L |title=ALAD porphyria is a conformational disease |journal=American Journal of Human Genetics |volume=80 |issue=2 |pages=329–37 |year=2007 |month=February |pmid=17236137 |pmc=1785348 |doi=10.1086/511444 |url=http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)62690-1}}</ref><ref name="pmid513604">{{cite journal |author=Doss M, von Tiepermann R, Schneider J, Schmid H |title=New type of hepatic porphyria with porphobilinogen synthase defect and intermittent acute clinical manifestation |journal=Klinische Wochenschrift |volume=57 |issue=20 |pages=1123–7 |year=1979 |month=October |pmid=513604 |doi= |url=}}</ref> It is an [[autosomal recessive disorder]] that results from inappropriately low levels of the enzyme [[porphobilinogen synthase|ALA dehydratase]] (ALAD, also called porphobilinogen synthase), which is required for normal [[heme]] synthesis.<ref name="jaffe"/> | '''ALA dehydratase deficiency''' (also called '''ALAD porphyria''') is a rare cause of [[hepatic porphyria]].<ref name="jaffe">{{cite journal |author=Jaffe EK, Stith L |title=ALAD porphyria is a conformational disease |journal=American Journal of Human Genetics |volume=80 |issue=2 |pages=329–37 |year=2007 |month=February |pmid=17236137 |pmc=1785348 |doi=10.1086/511444 |url=http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)62690-1}}</ref><ref name="pmid513604">{{cite journal |author=Doss M, von Tiepermann R, Schneider J, Schmid H |title=New type of hepatic porphyria with porphobilinogen synthase defect and intermittent acute clinical manifestation |journal=Klinische Wochenschrift |volume=57 |issue=20 |pages=1123–7 |year=1979 |month=October |pmid=513604 |doi= |url=}}</ref> It is an [[autosomal recessive disorder]] that results from inappropriately low levels of the enzyme [[porphobilinogen synthase|ALA dehydratase]] (ALAD, also called porphobilinogen synthase), which is required for normal [[heme]] synthesis.<ref name="jaffe"/> | ||
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Revision as of 19:15, 8 August 2012
| 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 (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)