5 month old child with hepatomegaly, ketosis, hyperuricemia and malaise diagnosis
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
Diabetes
Urea cycle defect
Glycogen storage disease
Mucopolysacchridosis
Gastrointestinal tract