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What is Most common enzyme deficiency responsible for Galactosemia is? and explain in detail?
ANSWER: (D) Galactose-1-phosphate uridyl transferaseREF: Textbook of Biochemistry and Human Biology by L. M. Srivastava Page 353, Saunders manual of pediatric practice by Laurence Finberg, Ronald E. Kleinman Page 238The Galactosemias are three inherited disorders of the catabolic pathway of Galactose (all autosomal recessive). HowTever the term usually denotes the most common (Classical) of these diseases, Galactose-1-phosphate uridyl transferase (GALT) deficiency"TyPeGeneEnzymeSigns/SymptomsCommentType 1 (CLASSICAL)GALTGalactose-1- phosphate uridyl transferaseGrowth & mental retardation, failure to thrive, refuses to feed milk, diarrhea/ vomiting on feeding, Hepatomegaly/ jaundice, cataractMost common & most severeType 2GALK1GalactokinaseMild form, Only known symptom is cataracts, due to production of galactitol in the lens. Type 3GALEUDP galactose epimeraseVaries from mild to severe. Severe form is similar to classical GalactosemiaRarest, Mild form is Most benign