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
5 month old child with hepatomegaly, ketosis, hyperuricemia and malaise diagnosis
assistant
The correct answer is  Mucopolysaccharidosis Acid mucopolysaccharides are abnormally deposited in the tissues,and excreted in the urine. clinical features Mental retardation Cloudy cornea Bone changes:thickening of skull,broad spatula like ribs,beak shaped veebrae facies:coarse,lips are thick,teeth are peg like,bridge of nose depressed hepatosplenomegaly hyperurecemia Ref : ESSENTIAL PEDIATRICS,O.P.GHAI,PG NO:636, 7th edition