Aldolase A deficiency

Pathway summary: heme degradation to bilirubin

Aldolase A deficiency, also called ALDOA deficiency or red cell aldolase deficiency, is an autosomal recessive metabolic disorder resulting in a deficiency of the enzyme aldolase A, which is found predominantly in red blood cells and muscle tissue. It may lead to hemolytic anaemia as well as myopathy associated with exercise intolerance and rhabdomyolysis in some cases.

单词	Aldolase A deficiency
释义	Aldolase A deficiency 英语百科 Aldolase A deficiency Aldolase A deficiency, also called ALDOA deficiency or red cell aldolase deficiency, is an autosomal recessive metabolic disorder resulting in a deficiency of the enzyme aldolase A, which is found predominantly in red blood cells and muscle tissue. It may lead to hemolytic anaemia as well as myopathy associated with exercise intolerance and rhabdomyolysis in some cases.
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