Dictionary of Human Evolution and Biology

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Galactosemia, Type I

Inability to digest milk sugar; symptoms in classic galactosemia (type I) include muscle weakness, enlargement of the liver, cataracts, palsy, seizures, and mental impairment; fatal if untreated. The defective enzyme is galactose-1phosphate uridyl transferase (GALT, an autosomal recessive). GALT catalyzes step 2 of galactose to glucose reduction. About 150 different mutations to the GALT enzyme have been identified worldwide. One of the many known errors of carbohydrate metabolism. Aka GALT deficiency.

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