galactosemia
[group of inherited enzyme deficiencies which feature elevations of galactose in the blood; this condition may be associated with deficiencies of galactokinase, UDP glucose-hexose-1-phosphate uridylyltransferase (classic form), or UDP glucose 4-epimerase; the classic form presents in infancy with failure to thrive, vomiting, and intracranial hypertension; affected individuals also may develop mental retardation, jaundice, hepatosplenomegaly, ovarian failure and cataracts. ( CSP )]
UMLS (CSP) C0016952- Disease or Syndrome
Relation/PAR: Carbohydrate Metabolism, Inborn Errors
enzyme deficiency
Brain Diseases, Metabolic, Inborn
enzyme deficiency
Brain Diseases, Metabolic, Inborn
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