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Pathway Description
Galactosemia III
Homo sapiens
Disease Pathway
Galactosemia III also called GALE deficiency or UDP-Galactose-4-Epimerase deficiency, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder caused by either a homozygous or compound heterozygous mutation in the UDP-galactose-4-epimerase (GALE) gene. GALE catalyses the reversible conversion of UDP-galactose to UDP-glucose in galactose metabolism. Symptoms are similar to classic galactosemia, including jaundice, vomiting, hypotonia, failure to thrive, hepatomegaly, moderate generalized amino aciduria and marked galactosuria. Treatment usually includes galactose restricted diets instead of galactose free diets in the management of this disorder because unlike patients with galactokinase deficiency and classic galactosemia, patients with galactose epimerase deficiency cannot utilize the endogenous pathway for synthesis of UDP-galactose. This makes patients dependent on exogenous galactose.
References
Galactosemia III References
[Metagen: GALACTOSEMIA III](http://metagene.de/program/d.prg?id_d=139)
[OMIM: 230350](http://omim.org/entry/230350})
Alano A, Almashanu S, Chinsky JM, Costeas P, Blitzer MG, Wulfsberg EA, Cowan TM: Molecular characterization of a unique patient with epimerase-deficiency galactosaemia. J Inherit Metab Dis. 1998 Jun;21(4):341-50.
Pubmed: 9700591
Dias Costa F, Ferdinandusse S, Pinto C, Dias A, Keldermans L, Quelhas D, Matthijs G, Mooijer PA, Diogo L, Jaeken J, Garcia P: Galactose Epimerase Deficiency: Expanding the Phenotype. JIMD Rep. 2017;37:19-25. doi: 10.1007/8904_2017_10. Epub 2017 Mar 1.
Pubmed: 28247339
Nucleotide Sugars Metabolism References
Lehninger, A.L. Lehninger principles of biochemistry (4th ed.) (2005). New York: W.H Freeman.
Salway, J.G. Metabolism at a glance (3rd ed.) (2004). Alden, Mass.: Blackwell Pub.
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