Aldolase A deficiency

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Aldolase A deficiency
Classification and external resources
ICD-10	E 74.1
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.

Aldolase A deficiency has an autosomal recessive pattern of inheritance.

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.

Inborn error of carbohydrate metabolism: monosaccharide metabolism disorders (including glycogen storage diseases) (E73–E74, 271)

Sucrose, transport
(extracellular)

Disaccharide catabolism	Lactose intolerance · Sucrose intolerance

Monosaccharide transport	Glucose-galactose malabsorption · Inborn errors of renal tubular transport (Renal glycosuria) · Fructose malabsorption

Hexose → glucose

Monosaccharide catabolism

fructose: Essential fructosuria · Fructose intolerance

galactose/galactosemia : GALK deficiency · GALT deficiency/GALE deficiency

Glucose ⇄ glycogen

Glycogenesis	GSD type 0, glycogen synthase · GSD type IV, Andersen's, branching

Glycogenolysis	extralysosomal: GSD type V, McArdle, muscle glycogen phosphorylase/GSD type VI, Hers', liver glycogen phosphorylase · GSD type III, Cori's, debranching lysosomal/LSD: GSD type II, Pompe's, glucosidase

Glucose ⇄ CAC

Glycolysis	MODY 2/HHF3 · GSD type VII, Tarui's, phosphofructokinase · Triosephosphate isomerase deficiency · Pyruvate kinase deficiency

Gluconeogenesis	PCD · Fructose bisphosphatase deficiency · GSD type I, von Gierke, glucose 6-phosphatase

Pentose phosphate pathway

Glucose-6-phosphate dehydrogenase deficiency · Transaldolase deficiency

Other

Hyperoxaluria (Primary hyperoxaluria) · Pentosuria

M: MET

mt, k, c/g/r/p/y/i, f/h/s/l/o/e, a/u, n, m

k, cgrp/y/i, f/h/s/l/o/e, au, n, m, epon

m(A16/C10),i(k, c/g/r/p/y/i, f/h/s/o/e, a/u, n, m)

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