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Disease Descriptions, Information and Management

(304) 558-5388 or Toll-Free (In WV) 1-800-642-8522

 
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Amino Acid Metabolic Disorders
PKU - Phenylketonuria PDF HTML
MSUD - Maple Syrup Urine Disease (Branched-Chain Ketoaciduria) PDF HTML
HCY - Homocystinuria PDF HTML
CIT - Citrullinemia PDF  
ASA - Argminosuccinic PDF  
TYRI - Tyrosinemia PDF HTML
 
Organic Acid Metabolism Disorders
IVA - Isovaleric Acidemia PDF  
GAI – Glutaric Acidemia Type I PDF  
HMG - Hydroxy 3 Methylglutary1-CoA  Lyase Deficiency (HMG) PDF  
MUT - Methylmalonic acidemia due to Mutase deficiency PDF  
3MCC - 3 Methylcrotonyl - COA Carboxylase deficiency PDF  
PROP - Propionic acidemia PDF  
BKT - Beta - Ketothiolase deficiency PDF  
 
Fatty Acid Oxidation Disorders
MCAD - Medium-Chain acyl-CoA Dehydrogenase PDF HTML
VLCAD - Very Long Chain acyl – CoA dehydrogenase deficiency PDF  
LCHAD - Long - Chain 3-OH acyl – CoA dehydrogenase deficiency PDF  
TFP - Trifunctional protein deficiency PDF  
CUD - Carnitine uptake defect PDF  
 
Hemoglobinopathies
Hb SS - Sickle Cell Disease and Other Hemoglobinopathies PDF HTML
Hb S/Th - Hb S/ Beta - Thalassemia PDF  
Hb S/C - Hb S/C disease PDF  
 
Others
CH - Congenital Hypothyroidism PDF HTML

BIOT - Biotinidase Deficiency

PDF HTML
CAH - Congenital Adrenal Hyperplasia PDF HTML
GALT - Classical Galactosemia PDF HTML
HEAR - Congenital Hearing Loss PDF HTML
CF - Cystic Fibrosis PDF HTML

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