Galactosemias (definition)

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Galactosemias

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Definition: 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 (PRIMARY OVARIAN INSUFFICIENCY); and cataracts. (From Menkes, Textbook of Child Neurology, 5th ed, pp61-3)

Other names UDPglucose-Hexose-1-Phosphate Uridylyltransferase ; UDPglucose 4-Epimerase Deficiency Disease; Galactose-1-Phosphate Uridyl-Transferase Deficienc; Galactokinase Deficiency Disease; Galactosemia 3; Uridylyltransferase Deficiency, UDPglucose-Hexose; Uridylyltransferase Deficiencies, UDPglucose-Hexos; Uridyltransferase Deficiency, Galactose-1-Phosphat; Uridyltransferase Deficiencies, Galactose-1-Phosph; UTP Hexose 1 Phosphate Uridylyltransferase Deficie; UTP Hexose 1 Phosphate Uridylyltransferase Deficie; UDPglucose-Hexose-1-Phosphate Uridylyltransferase ; UDPglucose Hexose 1 Phosphate Uridylyltransferase ; UDPglucose 4 Epimerase Deficiency Disease; UDP-Galactose-4-Epimerase Deficiency Diseases; UDP-Galactose-4-Epimerase Deficiencies; UDP Galactose 4 Epimerase Deficiency Disease; UDP Galactose 4 Epimerase Deficiency; Galactosemias, Classic; Galactosemia 3s

Substance	CAS Registry & name	Categories	Source
Galactokinase deficiency	0	*Galactosemias.

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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