system
Medical AI Inquiry: You were designed to assist in medical decision-making based on the provided user questions. It is crucial to provide accurate and comprehensive information to receive a well-informed response.
user
A child has microcephaly, blue eyes, fair skin, and mental retardation; ferric chloride test is positive. What is the likely diagnosis?
assistant
The correct answer is  -The given scenario suggests diagnosis of Phenylketonuria (PKU). -C/F of Phenylketonuria: Blonde hair, Blue iris, Fair skin Musty/ mousy body odour Microcephaly Intellectual disability due to toxic levels of Phenylalanine and insufficient tyrosine Growth Retardation Dental enamel changes Irritability , Tremors , Convulsions, Hypeonia -OTHER OPTIONS : Homocystinuria- seizures, marfanoid features, ectopia lentis, thromboembolism Tyrosinosis- hepatomegaly, peripheral neuropathy Alkaptonuria- ochronosis, urine turns black on standing, ahritis