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Biochemistry Proteins and Amino Acids 85a12cf9

A 2-year-old intellectually disabled child is having blue eyes, blonde hair and fair skin. He also has a peculiar body odour. What is the diagnosis?

A
MSUD
B
Isovaleric Aciduria
C
Phenylketonuria
D
Canavan's disease
High-Yield Explanation
Ans. C. PhenylketonuriaBlue eyes, blonde hair and fair skin is a classical description of a case of PKU. The child is Intellectually disabled and they have mousy body odour.

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