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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.
== History ==
The first recorded case of Aldolase A deficiency was described in 1973 (Beutler et al.) of a Jewish Canadian boy of Romanian descent. As his parents were first cousins, the presentation of dysmorphic features is conjecturally linked to confounding homozygosity at additional recessive loci. Inborn errors of metabolism are not typically associated with malformation and subsequent cases have lacked such physical manifestations. In particular this leads to a complication for clearly delineating the effects of enzymatic aldolase-A deficiency.
The two familial male patients reported in 1981 (having been born in 1967 and 1979) were from a small Japanese island indicating a similar possibility of consanguinity. However, unlike in the primary instance parental aldolase activity was also partially reduced without significant physiological ailment.
The other two cases documented in 1996 and 2004 lacked evidence for contiguity and deviated from previous findings in demonstration of additional myopathic complaints. The former boy's parents' and brother's aldolase activity's were half that of normal control values.〔 The Sicilian girl's mother had benign hereditary ellipocytosis, a dominant condition resulting in elongated erythrocytes, which was passed on to her. However, her father's blood count and smear produced normal findings.〔
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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