Microcephaly, blue eyes, fair skin, and mental retardation in a 4 year old girl with a positive ferric chloride test is indicative of which of the following?
A child presenting with microcephaly blue eyes, fair skin, mental retardation and a positive ferric chloride test typically describes a patient with Phenylketonuria. Ref: Textbook of Biochemistry for Medical Students, By D. M. Vasudevan.M.D, DM Vasudevan, Page 208; Harrison's - 16th Edition, Page 2333
Phenylketonuria (PKU)
Homocystinuria
Tyrosinosis
Alkaptonuria