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88) A normal born child presents with mental retardation, blon | Paediatrics videos & books

88) A normal born child presents with mental retardation, blond hair and convulsions at 1 year of age. Most probable diagnosis is?
Anonymous Quiz
7%
a. Albuminuria
59%
b. Phenylketonuria
20%
c. Gaucher’s disease
14%
d. Tyrosinemia