A child has tnicrocephaly, blue eyes, Fair skin, and Mental retardation, Ferric chloride test is positive.What is the likely diagnosis -
High-Yield Explanation
Clinical manifestations of phenylketonuria
Normal at birth
Symptoms occur after 1 months -
Mental retardation → Not present at birth, develops gradually.
Neurological signs Irritability, tremors, convulsions, hyperkinesis and muscular hypertonia & exaggerated reflex.
Blond hair, blue iris, fair skin.
Musty or mousy body odor.
Vomiting
Microcephaly
Enamel hypoplasia & Growth retardation