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?
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.
MSUD
Isovaleric aciduria
Phenyl ketonuria
Canavan's disease
Proteins and Amino Acids