DeCS Server - List Exact Term

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DeCS

Descriptor English:

Galactosemias

Descriptor Spanish:

Galactosemias

Descriptor Portuguese:

Galactosemias

Synonyms English:

Galactokinase Deficiency Disease
Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease
UDPglucose 4-Epimerase Deficiency Disease

Tree Number:

Definition English:

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)

See Related English:

History Note English:

2000(1966)

Allowable Qualifiers English:

Record Number:

5832

Unique Identifier:

D005693

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