Which disorder is associated with convulsions, cataract and mental retardation?
Inability to metabolize galactose occurs in the galactosemias, which may be caused by inherited defects of galactokinase, uridyl transferase, or 4-epimeraseThe diagnosis of uridyl transferase deficiency should be considered in newborn or young infants with any of the following features: jaundice, hepatomegaly, vomiting, hypoglycemia, seizures, lethargy, irritability, feeding difficulties, poor weight gain or failure to regain bih weight, aminoaciduria, nuclear cataracts, vitreous hemorrhage, hepatic failure, liver cirrhosis, ascites, splenomegaly, or intellectual disability. Symptoms are milder and improve when milk is temporarily withdrawn and replaced by intravenous or lactose-free nutritionRef: Nelson Textbook of Pediatrics; 20th edition; Page no: 726
Galactosaemia
Phenylketonuria
Tyrosinemia
Maple syrup disease
Metabolic disorders