SIX GENETIC NEWBORN DISORDERS PARENTS SHOULD BE AWARE OF

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 are continued would cause severe complications such as enlargement of spleen, edema, bleeding etc.

4. CYSTIC FIBROSIS; this disorder causes the body to produce thick, sticky mucus which eventually blocks the lung leading to infection, breathing difficulty. Mucus also obstructs the pancreas which inhibits the absorption of nutrients.

5. NIEMANN-PICK DISEASE; babies with this disorder develops liver enlargement and have difficulty feeding.

6.   CYSTNOSIS  is an inherited recessive trait and causes Fancomi syndrome when cystine crystals accumulate within the proximal renal tubules of the nephron.  This diseases causes growth retardation, rickets and without renal dialysis or transplant these patients die by the 10 years.  This disease is evidence during the first year of life.