True regarding galactosemia:
A. Mental retardation occursB. Absent disaccharidase in intestine
C. Defect in epimerase
D. Defect in galactose 1 P04uridyl transferase
E. Associated sphingosine receptor defect
The Answer
is. (A) Mental retardation occurs;
(C) Defect in epimerase (D) Defect in galactose 1 P04 uridyl transferase
• Inability to metabolise Galactose occurs in the
Galactosemias which may be caused by deficiency of Galactose-1-phosphate uridyl
transferase (Classical Galactosemia), UDP Galactose 4-epimerasè and
Galactokinase
• C/F. Jaundice, hepatomegaly, hypoglycemia, vomitting, convulsion, cataract,
Mental retardation, vitreous hemorrhage, amino-aciduria, hepatic cirrhosis,
ascites, splenomegaly, poor weight-gain, feeding difficulties etc.• Increased risk for Neonatal Septicemia with E. Coli in galactosemia.
