ALDOA deficiency, Red cell aldolase deficiency,[1] or Glycogen storage disease type 12 (GSD XII)[2]
Aldolase A deficiency has an autosomal recessive pattern of inheritance
Specialty
Endocrinology
Aldolase A deficiency is an autosomal recessive[3] metabolic disorder resulting in a deficiency of the enzyme aldolase A; the enzyme is found predominantly in red blood cells and muscle tissue. The deficiency may lead to hemolytic anaemia as well as myopathy associated with exercise intolerance and rhabdomyolysis in some cases.
^Online Mendelian Inheritance in Man (OMIM): 611881
^Orphanet: Glycogen storage disease due to aldolase A deficiency
^Kishi H, Mukai T, Hirono A, Fujii H, Miwa S, Hori K (1987). "Human aldolase A deficiency associated with a hemolytic anemia: Thermolabile aldolase due to a single base mutation". Proc. Natl. Acad. Sci. 84 (23): 8623–7. Bibcode:1987PNAS...84.8623K. doi:10.1073/pnas.84.23.8623. PMC 299598. PMID 2825199.
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Aldolase B also known as fructose-bisphosphate aldolase B or liver-type aldolase is one of three isoenzymes (A, B, and C) of the class I fructose 1,6-bisphosphate...
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sialic acids can be also biosynthesized by an aldolase. This enzyme uses for example a mannose derivative as a substrate, inserting three carbons from pyruvate...
reaction catalyzed by aldolase: The bond joining carbons 3 and 4 is broken, leaving dihydroxyacetone joined to the enzyme via a Schiff base. This cleavage...
Samland AK (2008). "Replacement of a phenylalanine by a tyrosine in the active site confers fructose-6-phosphate aldolase activity to the transaldolase of...
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