Which disorder is associated with convulsions cataract and mental retardation?
Galactosemia is associated with convulsions, cataract and mental retardation. Uridyl transferase deficiency leads to galactosemia. Impoant features: Jaundice, hepatomegaly, vomiting, hypoglycemia, convulsions, lethargy, irritability, feeding difficulties, poor weight gain, aminoaciduria, cataract, vitreous hemorrhage, hepatic cirrhosis, ascites, splenomegaly, or mental retardation.Patients with galactosemia are at increased risk for Escherichia coli neonatal sepsis.Transferase deficiency galactosemia is an autosomal recessive trait.
Galactosaemia
Phenylketonuria
Tyrosinemia
Maple syrup disease