Aldolase A deficiency

Aldolase A deficiency


Caption =
DiseasesDB = 29873
ICD10 =
ICD9 =
OMIM = 611881
MedlinePlus =
eMedicineSubj =
eMedicineTopic =
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Aldolase A deficiency, also called ALDOA deficiency and red cell aldolase deficiency, [OMIM|611881] is an autosomal recessive [cite journal |pmid=2825199 |year=1987 |month=Dec |author=Kishi H, Mukai T, Hirono A, Fujii H, Miwa S, Hori K |title=Human aldolase A deficiency associated with a hemolytic anemia: thermolabile aldolase due to a single base mutation |volume=84 |issue=23 |pages=8623-8627 |issn=0027-8424 |pmc=299598 |journal=Proceedings of the National Academy of Sciences of the United States of America |url= |format=Free full text] 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.


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