LWW

1. Maple Syrup Urine Disease (MSUD); is a rare autosomal recessive inherited disease. It is caused by accumulation of certain amino acid. Within the first few weeks of life, Infants with maple syndrome manifests symptoms. This disease causes mental retardation and death if not diagnosed and treated. The urine of patients with this disease usually smells like maple syrup or caramel. 2. PHENYLKETONURIA ; is an autosommal recessive disease caused by deficient or defect of an enzyme phenylalanine hydroxylase.  PKU results in severe mental retardation if not diagnosed and treated.  Within 2 to 3 weeks of life, brain injury occurs due to high plasma levels of phenylalanine. Urine of patients with PKU Has a musty or mousy odor. 3. GALACTOSURIA; it is an autosomal recessive inherited disease as a result of deficiency or defective enzyme in the galactose metabolic pathway.  As a result galactose from diet cannot be converted to glucose.  Cataracts develops after birth. if milk feeding