Disorders being Screened by Biochemical and Other Technologies

Disorders being Screened by Biochemical and Other Technologies 1. Biotinidase Deficiency: Biotinidase Deficiency is caused by the complete or partial lack of the enzyme biotinidase. This condition can lead to seizures, developmental delay, eczema, and hearing loss. 2. Congenital Adrenal Hyperplasia: Congenital Adrenal Hyperplasia (CAH) is a genetic endocrine disorder caused primarily by a deficiency of enzymes needed for the adrenal glands to make the hormones cortisol and aldosterone. It can result in masculinization of female genitalia as well as adrenal crisis and early infant death. 3. Cystic Fibrosis: Cystic Fibrosis (CF) is an inherited condition that affects the glands that produce mucus, tears, sweat, saliva, and digestive juices. It causes severe lung damage and nutritional deficiencies. Respiratory failure is the most dangerous consequence. 4. Congenital Hypothyroidism: Hypothyroidism is a disorder in which there is a decrease in the production of thyroid hormone, possibly resulting in brain damage and mental retardation in the absence of prompt treatment. 5. Galactosemia: Galactosemia is an inborn error of metabolism, inherited as an autosomal-recessive trait, in which the hepatic enzyme galactose- 1- phosphate uridyl transferase is absent, preventing the conversion of the milk sugar galactose to glucose. If untreated death can occur in the first month of life. 6. Hemoglobinopathies: Hemoglobinopathy, which includes sickle cell diseases, thalassemia, and other variants are blood disorders resulting from change in the structure of hemoglobin. Sickle Cell Disease, the most common hemoglobinopathy in Mississippi, is an inherited disease found primarily in African-Americans and people of Mediterranean descent. Although there is no cure for sickle cell disease, early detection is important for effective treatment and prevention of complications. Infection due to Streptococcus pneumonia is a significant cause of death during the first few years of life for patients with sickle cell disease.