Galactose epimerase deficiency is the least understood form of galactosemia. Originally, galactose epimerase deficiency was identified as a biochemical oddity that impacted only red and white blood cells in apparently healthy individuals. This condition was termed "peripheral type" because it impacted only cells in peripheral circulation. Subsequently, rare patients were identified who were severely symptomatic and demonstrated epimerase deficiency in various cell types, and it was termed "generalized type".
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C51 Inborn errors of carbohydrate metabolism
H02010 Galactose epimerase deficiency
Pathway-based classification of diseases [BR:br08402]
Carbohydrate metabolism
nt06023 Galactose degradation
H02010 Galactose epimerase deficiency
Characterization of two mutations associated with epimerase-deficiency galactosemia, by use of a yeast expression system for human UDP-galactose-4-epimerase.
