These information sheets provide a brief description of the disorder, clinical symptoms, etiology, and treatment for the disorder. 

Metabolic Disorders

• Biotinidase Deficiency (BTN)
  
• Carnitine Uptake Deficiency (CUD)
  
• Citrullinemia (CIT) and Argininosuccinic Aciduria (ASA) 
  
• Cobalamin Disorders (Cbl A,B) and Methylmalonic Acidemia (MUT) 
  
• Glutaric Aciduria Type 1 (GAI) 
  
• Galactosemia (GALT) 
  
• Guanidinoacetate Methyltranferase Deficiency (GAMT)
  
• Homocystinuria (Hcy) 
  
• Isovaleric Acidemia (IVA) 
  
• Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD) 
  
• Maple Syrup Urine Disease (MSUD) 
  
• Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCAD) 
  
• Phenylketonuria (PKU) 
  
• Propionic Acidemia (PROP) 
  
• Tyrosinemia I (Tyr I) 
  
• Very-Long Chain AcylCoA Dehydrogenase Deficiency (VLCAD)
  

Endocrine Disorders

• Congenital Adrenal Hyperplasia (CAH) 
  
• Congenital Hypothyroidism (CH)
  

Hemoglobin Disorders & Hemoglobin Traits (Carriers)

• Hemoglobinopathies: Sickle Cell Disease
• Hemoglobin Traits/Carriers