Conditions We Treat
- Adrenoleukodystrophy - XALD
-
Amino Acid Metabolic Disorders
- ASA -Argininosuccinic Acidemia
- CIT - Citrullinemia
- HCY - Homocystinuria
- MSUD - Maple Syrup Urine Disease
- PKU – Phenylketonuria
- TYRI - Tyrosinemia types, I,II, and III
- Biotinidase deficiency - BIOT
-
Fatty Acid Oxidation Disorders
- CUD - Carnitine uptake deficiency
- LCHAD - Long - Chain 3-OH acyl - CoA dehydrogenase deficiency
- MCAD - Medium - Chain acyl - CoA dehydrogenase deficiency
- TFP - Trifunctional protein deficiency
- VLCAD - Very Long Chain acyl - CoA dehydrogenase deficiency
- Galactosemia 1965 - GALT
- Lysosomal Storage Disorders
-
Organic Acid Metabolism Disorders
- 3MCC - 3 Methylcrotonyl - COA Carboxylase deficiency
- BKT - Beta - Ketothiolase deficiency
- Cbl A,B – Methylmalonic acidemia cbl a and cbl b forms
- GAI – Glutaric Acidemia
- HMG 3 - Hydroxy 3 Methylglutaric-CoA Lyase
- IVA - Isovaleric Acidemia
- MCD - Multiple Carboxylase Deficiency
- MUT - Methylmalonic acidemia due to Mutase deficiency
- PROP - Propionic acidemia
- Spinal Muscular Atrophy - SMA
A list of all disorders screened for in West Virginia can be found here.