Disease Information
The following is the full list of diseases in alphabetical order. Please click on any of the diseases to learn more about them.
- Argininosuccinic Acid Lyase Deficiency (ASA)
- Biliary Atresia (BA)
- Biotinidase Deficiency
- Carnitine Uptake Defect (CUD)
- Citrullinemia
- Cobalamin A & B Defects
- Congenital Adrenal Hyperplasia (CAH)
- Congenital Cytomegalovirus (CMV)
- Congenital Hypothyroidism (CH)
- Critical Congenital Heart Disease (CCHD)
- Cystic Fibrosis (CF)
- Galactosemia
- GJB2-related Permanent Hearing Loss
- Glutaric Acidemia Type 1 (GA1)
- Guanidinoacetate methyltransferase (GAMT) deficiency
- Homocystinuria
- Hurler Disease (“Mucopolysaccharidosis type 1H” or “MPS1H”)
- Isovaleric Acidemia (IVA)
- Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD)
- Maple Syrup Urine Disease (MSUD)
- Medium Chain Acyl CoA Dehydrogenase Deficiency (MCADD)
- Methylmalonic Acidemia (MMA)
- Phenylketonuria (PKU)
- Propionic Acidemia (PA)
- Severe Combined Immune Deficiency (SCID)
- Sickle Cell Disease - Hemoglobin SC
- Sickle Cell Disease - Hemoglobin SS
- Sickle Cell Disease - Sickle/Beta-Thalassemia
- SLC26A4-related Permanent Hearing Loss
- Spinal Muscular Atrophy (SMA)
- Trifunctional Protein Deficiency (TFP)
- Tyrosinemia Type 1
- Very Long Chain Acyl CoA Dehydrogenase Deficiency (VLCAD)
Contact Us
Children’s Hospital of Eastern Ontario
415 Smyth Road
Ottawa, Ontario K1H 8M8
Toll-Free: 1-877-627-8330
Local: (613) 738-3222
Fax: (613) 738-0853