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Metabolic Diseases

2 out of 3

True regarding galactosemia - (PGI Dec 0l)

A Mental retardation occurs

B Absent disaccharidase in intestine

C Defect in epimerase

D Defect in galactose 1PO uridy1 transferase

Ans. A

Mental retardation; 'c' Defect in Epimerase & 'd' Defect in glacactose-1- Phosphate uridyl transferase

a. Inability to metabolise galactose occurs in galactosemia which may be caused by deficiency of galsctose-l- phosphate uridyl transferase, UDP-Galactose4-Epimerase and galactokinase.

b. Out of three, most common is Galactose = 1-phosphate uridyl transferrse deficiency.