Molecular characterization of a unique patient with epimerase-deficiency galactosaemia.

doi:10.1023/a:1005342306080

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Article

Molecular characterization of a unique patient with epimerase-deficiency galactosaemia.

Journal of inherited metabolic disease - 1 Jun 1998

Alano A, Almashanu S, Chinsky J M, Costeas P, Blitzer M G, Wulfsberg E A, Cowan T M

Abstract excerpt

Inherited deficiencies of UDP-galactose 4-epimerase (GALE) have been associated with two distinct phenotypes. The vast majority of North American patients are clinically asymptomatic, are identified through newborn screening programmes for classical galactosaemia, and are of African-American desc...

Topics

Child, Preschool
Galactosemias
Humans
Male
Mutation
Polymerase Chain Reaction
UDPglucose 4-Epimerase

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