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 2-year-old boy is brought to clinic because of poor development as well as vomiting, irritability, and a skin rash. The boy's mother also notes that his urine has a strange "mousy" odor. Physical examination reveals the child has an eczema-like rash, is hyperreflexive, and has increased muscle tone. He has a surprisingly fair-skinned complexion compared to the rest of his family. What is the most likely diagnosis?
assistant
The correct answer is  Phenylketonuria: Phenyl ketone i.e. Phenyl Pyruvate found in urine of these patients (Pyruvate is a Keto-acid). Affected children are normal at bih but fail to reach developmental milestones Clinical features: Body odour - mousy or musty because of phenylacetate. Severe mental retardation due to excess Phenylalanine. Tyrosine becomes essential Deficiency of pigment Melanin (formed from Tyrosine), leads to fair skin, blue eyes and light hair color. OTHER FEATURES: Microcephaly, rash, hypeoma, seizures, hyperactivity, exaggerated tendon reflexes, wide-spaced teeth, enamel hypoplasia. Rx:- Decreased dietary phenylalanine (which is contained in many foods, including aificial sweeteners). Dietarytyrosine supplementation(In patients with pKU, tyrosine cannot be derived from phenylalanine) Currently, screeningis mandatory and performed6 days to 2 weeksafter bih using high-performance liquid chromatography.