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Pediatrics Inborn Errors of Metabolism fa7f378f

The enzyme that is deficient in homocysteinuria:

A
Tyrosinase
B
Sphingomyelinase
C
Cystathionine synthase
D
Acid lipase
High-Yield Explanation
c. Cystathionine synthase(Ref: Nelson's 20/e p 636-642; Ghai 8/e p 653-655)Basic Defect of E.Homocystinuria:Classic Homocystinuria is caused by Cystathionine b-Synthase deficiencyHoocystinuria can also be caused by deficiency of Methylene tetrahydrofolate Reductase & defects in Methylcobalamin formation.

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