Newborn Screening Disorders

Amino acid disorders

Argininosuccinic Aciduria / Citrullinemia

Elevated citrulline in a newborn screen dried blood spot suggests one of two metabolic defects: argininosuccinic acid synthetase deficiency or argininosuccinate lyase deficiency

Homocystinuria (HCY)

Homocystinuria is an inherited disorder that can be detected in newborns, in which the body is unable to process certain amino acids properly.

Maple Syrup Urine Disease (MSUD)

Maple Syrup Urine Disease is caused by a deficiency in the ability to decarboxylate branched-chain amino acids.

Tyrosinemia Type-1 (TYR I)

Tyrosinemia type 1 is characterized by elevated blood levels of tyrosine

Fatty acid oxidation disorders

Carnitine Uptake Defect (CUD)

Carnitine uptake defect (CUD) is a condition that prevents the body from using fats for energy, particularly during periods without food (fasting).

Long Chain L-3 hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD)

Long-chain L-3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a disorder of mitochondrial fatty acid β-oxidation.

Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD)

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a disorder of fatty acid β-oxidation

Lysosomal storage disorders (LSDs)

Lysosomal storage disorders develop as a result of an enzyme deficiency or malfunction that causes cell waste to build up within the cell instead of being excreted.

Organic acid disorders

3-Hydroxy-3-Methylglutaric Aciduria (HMG)

HMG was first described in 1971 and more than 60 patients have subsequently been diagnosed. HMG is estimated to occur in less than 1 in 100,000 live births.

3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC)

3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC) is a defect in the degradation of the amino acid leucine.

Glutaric Acidemia Type I (GA I)

The disease is caused by a genetic deficiency of the enzyme, glutaryl-CoA dehydrogenase (GCD), which leads to the buildup of glutaric acid in the tissues and its excretion in the urine of affected patients. GCD is involved in the catabolism of the amino acids, lysine, hydroxylysine, and tryptophan.

Isovaleric Acidemia (IVA)

Isovaleric acidemia results from a defect in the metabolism of the amino acid, leucine.

Primary newborn screening disorders

Biotinidase Deficiency

In the absence of normal biotinidase activity, the patient develops functional biotin deficiency and its clinical symptoms.

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).

Congenital Hypothyroidism

Congenital hypothyroidism occurs when a child is born without the ability to make normal amounts of thyroid hormone.

Cystic Fibrosis

Cystic fibrosis (CF) is a hereditary disease that affects the lungs and digestive system

Duchenne muscular dystrophy (DMD)

DMD is caused by mutations in the gene coding for dystrophin protein, which provides structural stability to muscle cells.

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 deficiency (G6PD)

Glucose-6-phosphate dehydrogenase (G6PD) functions throughout the body, but its deficiency is seen predominantly in its effects on the red blood cells.

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.

Sickle Cell & Other Hemoglobinopathy

The hemoglobinopathies are a group of disorders in which there is abnormal production or structure of the hemoglobin molecule.

Spinal Muscular Atrophy (SMA)

Spinal muscular atrophy (SMA) is a neuromuscular disease inherited in an autosomal recessive manner.

X-linked agammaglobulinemia (XLA)

X-linked agammaglobulinemia (XLA) is characterized by recurrent bacterial infections in affected males in the first two years of life.