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OMCFH/Newborn Screening
Disease Descriptions, Information and Management
(304) 558-5388 or Toll-Free (In WV) 1-800-642-8522
| Amino Acid Metabolic Disorders | ||
|---|---|---|
| PKU - Phenylketonuria | HTML | |
| MSUD - Maple Syrup Urine Disease (Branched-Chain Ketoaciduria) | HTML | |
| HCY - Homocystinuria | HTML | |
| CIT - Citrullinemia | ||
| ASA - Argminosuccinic | ||
| TYRI - Tyrosinemia | HTML | |
| Organic Acid Metabolism Disorders | ||
| IVA - Isovaleric Acidemia | ||
| GAI - Glutaric Acidemia Type I | ||
| HMG - Hydroxy 3 Methylglutary1-CoA Lyase Deficiency (HMG) | ||
| MUT - Methylmalonic acidemia due to Mutase deficiency | ||
| 3MCC - 3 Methylcrotonyl - COA Carboxylase deficiency | ||
| PROP - Propionic acidemia | ||
| BKT - Beta - Ketothiolase deficiency | ||
| Fatty Acid Oxidation Disorders | ||
| MCAD - Medium-Chain acyl-CoA Dehydrogenase | HTML | |
| VLCAD - Very Long Chain acyl – CoA dehydrogenase deficiency | ||
| LCHAD - Long - Chain 3-OH acyl – CoA dehydrogenase deficiency | ||
| TFP - Trifunctional protein deficiency | ||
| CUD - Carnitine uptake defect | ||
| Hemoglobinopathies | ||
| Hb SS - Sickle Cell Disease and Other Hemoglobinopathies | HTML | |
| Hb S/Th - Hb S/ Beta - Thalassemia | ||
| Hb S/C - Hb S/C disease | ||
| Others | ||
| CH - Congenital Hypothyroidism | HTML | |
| BIOT - Biotinidase Deficiency | HTML | |
| CAH - Congenital Adrenal Hyperplasia | HTML | |
| GALT - ClassicalGalactosemia | HTML | |
| HEAR - Congenital Hearing Loss | HTML | |
| CF - Cystic Fibrosis | HTML | |