Generalized epimerase deficiency galactosemia.
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Date
2010-08
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Abstract
Galactosemia is caused by inherited deficiencies in one of three enzymes involved in the metabolism of galactose: galactose-
1-phosphate uridyltransferase (GALT), galactokinase (GALK), and uridine diphosphate galactose-4-epimerase (GALE). The
rarest and most poorly understood form of galactosemia is due to epimerase deficiency. We are reporting such a rarest form
of galactosemia presenting with progressively increasing cholestatic jaundice and failure to thrive at one month of age. After
confirmation of decreased epimerase level in RBC hemolysate, the patient was put on galactose restricted diet and vitamins
supplementation, which reversed the clinical signs as well as altered liver function. Patient is on regular follow-up and now
at 15 months of age he has no marked developmental delay.
Description
Keywords
Galctosemia, Uridine diphosphate galactose-4-epimerase (GALE) deficiency
Citation
Sarkar Mihir, Bose Some Suvra, Mondal Gobinda, Chatterjee Sukanta. Generalized epimerase deficiency galactosemia. Indian Journal of Pediatrics. 2010 Aug; 77(8): 909-910.