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?
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.
MSUD
Isovaleric Aciduria
Phenylketonuria
Canavan's disease
Proteins and Amino Acids