Aldolase A deficiency
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| Aldolase A deficiency | |
|---|---|
| Classification and external resources | |
| ICD-10 | E74.1 |
| OMIM | 611881 |
| DiseasesDB | 29873 |
Aldolase A deficiency, also called ALDOA deficiency and red cell aldolase deficiency,[1] is an autosomal recessive[2] metabolic disorder resulting in a deficiency of the enzyme aldolase A, which is found predominantly in muscle and red blood cells. It may lead to myopathy, exercise intolerance and rhabdomyolysis associated with hemolytic anaemia.
[edit] References
- ^ Online 'Mendelian Inheritance in Man' (OMIM) 611881
- ^ Kishi H, Mukai T, Hirono A, Fujii H, Miwa S, Hori K (December 1987). "Human aldolase A deficiency associated with a hemolytic anemia: thermolabile aldolase due to a single base mutation" (Free full text). Proceedings of the National Academy of Sciences of the United States of America 84 (23): 8623–8627. doi:10.1073/pnas.84.23.8623. ISSN 0027-8424. PMC 299598. PMID 2825199. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=299598.
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