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Metabolic Disorders


CONTACT
1-855-WVU-CARE(2273)

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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

1 Medical Center Drive Morgantown, WV 26506
304-598-1111


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