Defective GALE causes EDG

Stable Identifier
Homo sapiens
Defective GALE causes Epimerase-deficiency galactosemia (EDG)
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Cytosolic UDP-galactose 4'-epimerase (GALE) catalyses the reversible interconversion of UDP-D-galactose (UDP-Gal) and UDP-glucose (UDP-Glc), the third reacton in the Leloir pathway of galactose metabolism. GALE can also catalyse the epimerisation of UDP-N-acetylglucosamine to UDP-N-acetylgalactosamine. The active form of the enzyme is a homodimer with one molecule of bound NAD per monomer (GALE:NAD+ dimer). Defects in GALE can cause Epimerase-deficiency galactosemia (EDG; MIM:230350), or type III galactosemia (diseases of galactose metabolism) whose clinical features include early-onset cataracts, liver damage, deafness and mental retardation. Historically, it was considered that there were two forms of GALE deficidency; a benign ("peripheral") form where there is no GALE activity in red blood cells and characterised by mild symptoms (Gitzelmann 1972) and a rarer "generalised" form with no detectable GALE activity in all tissues resulting in more severe symptoms (Holton et al. 1981). The disease is now considered to be a continuum (Openo et al. 2006).

Literature References
PubMed ID Title Journal Year
4644860 Deficiency of uridine diphosphate galactose 4-epimerase in blood cells of an apparently healthy infant. Preliminary communication

Gitzelmann, R

Helv Paediatr Acta 1972
16385452 Epimerase-deficiency galactosemia is not a binary condition

Yu, C, Scaglia, F, Fridovich-Keil, JL, Schnur, RE, Lamance, K, Schroer, RJ, Slonim, AE, Gottesman, GS, Keenan, J, Berry, GT, Schulz, JM, Vargas, CA, Epstein, MP, Orton, CS, Ficicioglu, C, Openo, KK, Rangel, VE

Am. J. Hum. Genet. 2006
7305435 Galactosaemia: a new severe variant due to uridine diphosphate galactose-4-epimerase deficiency

Young, R, Holton, JB, Gillett, MG, MacFaul, R

Arch. Dis. Child. 1981
Name Identifier Synonyms
galactosemia DOID:9870 Galactose intolerance, Galactosaemia
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