CLASSIC GALACTOSEMIA
\klˈasɪk ɡˌalɐktə͡ʊsˈiːmi͡ə], \klˈasɪk ɡˌalɐktəʊsˈiːmiə], \k_l_ˈa_s_ɪ_k ɡ_ˌa_l_ɐ_k_t_əʊ_s_ˈiː_m_iə]\
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A group of inherited enzyme deficiencies which feature elevations of GALACTOSE in the blood. This condition may be associated with deficiencies of GALACTOKINASE; UDPGLUCOSE-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; or UDPGLUCOSE 4-EPIMERASE. The classic form is caused by UDPglucose-Hexose-1-Phosphate Uridylyltransferase deficiency, and presents in infancy with FAILURE TO THRIVE; VOMITING; and INTRACRANIAL HYPERTENSION. Affected individuals also may develop MENTAL RETARDATION; JAUNDICE; hepatosplenomegaly; ovarian failure (OVARIAN FAILURE, PREMATURE); and cataracts. (From Menkes, Textbook of Child Neurology, 5th ed, pp61-3)
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