'Boiled cabbage' smell of urine is feature of?
Ans. C. Hypermethioninemia. (Ref. Nelson Paediatrics 18th/pg. 539).HYPERMETHIONINEMIASecondary hypermethioninemia occurs in liver disease, tyrosinemia type I, and classic homocystinuria. Hypermethioninemia has also been found in infants receiving high-protein diets, in whom it may represent delayed maturation of the enzyme methionine adenosyl-transferase. Primary hypermethioninemia is caused by the deficiency of hepatic methionine adenosyltransferase. The majority of these patients have been diagnosed in the neonatal period through screening for homocystinuria. Affected individuals with residual enzyme activity remain asymptomatic throughout life despite persistent hypermethioninemia. Some complain of unusual odor to their breath and urine (boiled cabbage). A few patients with complete enzyme deficiency have had neurologic abnormalities related to demyelination (mental retardation, dystonia, dyspraxia). The gene for methionine adenosyltransferase is on chromosome 10q22. A novel defect, glycine N-methyltransferase deficiency, also causes isolated hypermethioninemia.
Phenylketonuria
Hawkinsuria
Hypermethioninemia
Maple Syrup Urine Disease
Proteins and Amino Acids