Disease Information

The following is the full list of diseases in alphabetical order. Please click on any of the diseases to learn more about them.

• Argininosuccinic Acid Lyase Deficiency (ASA) 
• Biliary Atresia (BA) 
• Biotinidase Deficiency 
• Carnitine Uptake Defect (CUD) 
• Citrullinemia 
• Cobalamin A & B Defects 
• Congenital Adrenal Hyperplasia (CAH) 
• Congenital Cytomegalovirus (CMV)
• Congenital Hypothyroidism (CH) 
• Critical Congenital Heart Disease (CCHD) 
• Cystic Fibrosis (CF) 
• Galactosemia 
• GJB2-related Permanent Hearing Loss
• Glutaric Acidemia Type 1 (GA1) 
• Guanidinoacetate methyltransferase (GAMT) deficiency 
• Homocystinuria 
• Hurler Disease (“Mucopolysaccharidosis type 1H” or “MPS1H”) 
• Isovaleric Acidemia (IVA) 
• Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD) 
• Maple Syrup Urine Disease (MSUD) 
• Medium Chain Acyl CoA Dehydrogenase Deficiency (MCADD) 
• Methylmalonic Acidemia (MMA) 
• Phenylketonuria (PKU) 
• Propionic Acidemia (PA) 
• Severe Combined Immune Deficiency (SCID) 
• Sickle Cell Disease - Hemoglobin SC
• Sickle Cell Disease - Hemoglobin SS
• Sickle Cell Disease - Sickle/Beta-Thalassemia
• SLC26A4-related Permanent Hearing Loss
• Spinal Muscular Atrophy (SMA) 
• Trifunctional Protein Deficiency (TFP) 
• Tyrosinemia Type 1 
• Very Long Chain Acyl CoA Dehydrogenase Deficiency (VLCAD) 
• X-linked Adrenoleukodystrophy (XALD)