Genetic Conditions (Master List)

Argininosuccinate Synthetase Defeciency

Argininosuccinate Lyase Deficiency

Biotinidase Deficiency

Congenital Adrenal Hyperplasia (CAH)

Fabry Disease

Familial Adenomatous Polyposis (FAP)

Farber Disease

Galactosemia

Gaucher Disease

Glycogen Storage Disease

Homocystinuria

Isovaleric Acidemia

Krabbe Disease

Maple Syrup Urine Disease (MSUD)

Medium Chain Acyl-CoA Dehydrogenase Deficiency

Methylmalonic Acidemia **or Aciduria

Mucopolysaccaridoses

Niemann-Pick Disease

Nonketotic Hyperglycinemia

Ornithine Transcarbamylase Deficiency (OTC)

Phenylketonuria (PKU)

Pompe Disease

Propionic Acidemia

Pyruvate Dehydrogenase Deficiency

Smith-Lemli-Opitz Syndrome

Tay-Sachs Disease

Tyrosinemia

Very Long Chain Acyl-CoA Dehyrogenase Defiency

Long Chain Hydroxyacyl-CoA Dehydrogenase Deficiency