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) Phenylketonuria (PKU), (B) Homocystinuria, (C) Tyrosinosis, (D) Alkaptonuria
Answer is A. 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