Genetics Education and Family Advisory Committees of Oklahoma

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Conditions for Which Oklahoma Screens

Congenital hypothyroidism (CH) is a condition characterized by a lowered rate of metabolism due to deficiency of thyroid hormone production as a result of a malformed, misplaced, malfunctioning or absent thyroid gland. The affected newborn appears normal at birth and my not have symptoms until the hypothyroidism is severe and long standing. Symptoms include a large posterior fontanel, prolonged jaundice, macroglossia, hoarse cry, distended abdomen, umbilical hernia, feeding problems, constipation, and hypotonia. Without prompt and adequate treatment mental and growth retardation occurs. Treatment with daily thyroid medication is necessary for normal growth and development. Most cases of congenital hypothyroidism are sporadic; only 5-10% of cases are inherited. Treatment is usually life-long. The Oklahoma incidence of congenital hypothyroidism is 1 in 3,321 live births. Nationally the incidence is 1 in 6,000.

Galactosemia is a condition characterized by the body's failure to break down galactose due to a deficiency or lack of the enzyme galactose-1-phosphate uridyl transferase. Most infants will have vomiting and formula intolerance. This defect in carbohydrate metabolism can lead to failure to thrive, liver disease, cataracts, kidney failure, mental retardation, sepsis and death if not treated within the first month of life. A special diet without lactose/galactose is required to prevent mental retardation or death. Diet restrictions include dairy products from any animal and foods containing dairy products. Lactose-free formulas are available for infants. It is recommended that the diet restriction be life-long. The incidence of galactosemia in Oklahoma is 1 in every 46,488 live births.

Phenylketonuria (PKU) is caused by the absence or deficiency of the enzyme phenylalanine hydroxylase that disrupts the conversion of the amino acid phenylalanine to tyrosine. The newborn appears normal at birth and may not have symptoms until irreversible brain damage has occurred. Symptoms include failure to thrive, frequent vomiting, irritability and foul (musty) smelling urine. Older children may have hyperactivity, behavioral problems and metal retardation. The defect in protein metabolism results in profound mental retardation if not treated with a special diet beginning within the first month of life. Foods that are high in protein and therefore high in phenylalanine are usually excluded from the diet. Special formulas, which are low in phenylalanine, are available for infants. It is recommended that the diet restriction be life-long. The incidence of phenylketonuria in Oklahoma is 1 in every 23,244 live births. The national average is 1 in 12,000.

Sickle cell disease is a condition in which the red blood cell sickles under stress. Sickle cell anemia is the most common form of sickle cell disease, but other forms of sickle cell disease exist. Sickle cell diseases vary in severity, but can result in sepsis and death if not treated with prophylactic penicillin within the first two months of life. Infants with sickle cell disease usually have no signs or symptoms at birth, but within the first year of life can suffer complications such as infections, anemia, splenic sequestration and pain. Treatment with antibiotics helps prevent infections that could cause severe illness or death. It is recommended that children remain on prophylactic penicillin until 5 years of age and be closely followed by a pediatric hematologist. Among African-Americans in Oklahoma the incidence of sickle cell trait is 1 in 16; hemoglobin C trait is 1 in 47; sickle cell anemia is 1 in 444, and the incidence of hemoglobin SC disease is 1 in 905.

Cystic Fibrosis (CF) is the number one genetic killer of children and young adults in the United States with a frequency of 1 in 2,500 Caucasian live births. CF is a multisystem disease in which defective chloride transport across membranes causes dehydration of secretions. The result is a production of a thick, sticky mucus that clogs the lungs. This leads to chronic lung infections, fatal lung disease, and also interferes with digestion. The progressive deterioration of lung function is the primary cause of death for CF patients. The mean age of diagnosis for CF children is 2.9 years, and many present malnourished. Screening for CF prevents malnutrition, and provides early treatment opportunities that may reduce morbidity associated with the disorder. Approximately 17 babies are born in Oklahoma each year with CF.

Congenital Adrenal Hyperplasia (CAH) 21-hydroxylase deficiency is the most common form of CAH with a frequency of 1 in 16,000 live births. This genetic disorder is caused by the lack of an enzyme that the adrenal gland uses to process hormones. Serious loss of body salt and water can result in death. In girls the genitalia may appear like that of a male, and can result in incorrect sex assignment. Hormone treatment is required for life. Approximately 3 babies are born each year in Oklahoma with CAH.

Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD) is a genetic disorder of fatty acid metabolism with a frequency of 1 in 20,000 live births. This disorder can cause metabolic crisis when an infant/child fasts. This crisis can lead to seizures, respiratory failure, cardiac arrest and death. Treatment is effective by preventing fasting. Approximately 3 babies are born each year in Oklahoma with MCAD.