Primary newborn screening disorder Browse our support library X-linked agammaglobulinemia (XLA) X-linked agammaglobulinemia (XLA) is characterized by recurrent bacterial infections in affected males in the first two years of life. Congenital Adrenal Hyperplasia (CAH) The deficiency in one of the five enzymes required in the steroidogenic pathway for the biosynthesis of cortisol (hydrocortisone) results in a group of diseases known collectively as congenital adrenal hyperplasia (CAH). Duchenne muscular dystrophy (DMD) DMD is caused by mutations in the gene coding for dystrophin protein, which provides structural stability to muscle cells. Cystic Fibrosis Cystic fibrosis (CF) is a hereditary disease that affects the lungs and digestive system Phenylketonuria (PKU) Phenylketonuria (PKU) is a disorder of amino acid metabolism Severe Combined Immunodeficiency (SCID) Severe combined immunodeficiency (SCID) is a group of disorders characterized by the absence of both humoral and cellular immunity. Spinal Muscular Atrophy (SMA) Spinal muscular atrophy (SMA) is a neuromuscular disease inherited in an autosomal recessive manner. Biotinidase Deficiency In the absence of normal biotinidase activity, the patient develops functional biotin deficiency and its clinical symptoms. Congenital Hypothyroidism Congenital hypothyroidism occurs when a child is born without the ability to make normal amounts of thyroid hormone. Galactosemia Galactosemia occurs when there is an accumulation of galactose-1-phosphate in red blood cells of infants with impaired galactose metabolism. Glucose-6-phosphate dehydrogenase (G6PD) deficiency Glucose-6-phosphate dehydrogenase (G6PD) functions throughout the body, but its deficiency is seen predominantly in its effects on the red blood cells. Sickle Cell and other Hemoglobinopathies The hemoglobinopathies are a group of disorders in which there is abnormal production or structure of the hemoglobin molecule.
