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Biochemistry Proteins and Amino Acids 38b16da1

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

A
MSUD
B
Isovaleric aciduria
C
Phenyl ketonuria
D
Canavan's disease
High-Yield Explanation
Ans. C. Phenyl ketonuriaIdentifying features:* Blue 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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