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HomePediatrics: Genetics and Metabolic DiseaseGalactose-1-Phosphate Uridyltransferase Deficiency (Galactosemia)

Galactose-1-Phosphate Uridyltransferase Deficiency (Galactosemia)


Hereditary galactosemia is among the most common carbohydrate metabolism disorders and can be a life-threatening illness during the newborn period.
In the American literature, it was first described in a variant patient in 1935 by Mason and Turner,
while, in Europe, the toxicity associated with breast milk consumption was first noted in 1908 by Von Reuss.
Both patients probably had galactose-1-phosphate uridyltransferase (GALT) deficiency, which is the most common enzyme deficiency that causes hypergalactosemia.
Removing lactose largely eliminates the toxicity associated with newborn disease, but long-term complications routinely occur, as reported by Komrower and Lee in 1970
and then delineated in a 1990 retrospective survey by Waggoner and associates
and Waisbren et al in 2012.

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