Q 92

This infant will unfortunately die. This patient will have galactosemia, galactosuria and impaired renal rubular resoprtion leading to aminoaciduira, hepatosplenomegaly, cataracts, hypoglycemia and mental retardation. CNS shows neuronal loss and gliosis, liver shows fatty change and cirrhosis. Treatment is a galactose free diet and early identification. Tell it apart from from galactokinase deficiency which leads to cataracts but not death.