The following fact sheets are designed for health care providers and outline the clinical features of disorders screened by Newborn Screening Ontario. They provide a brief description of the disorder, along with describing the clinical symptoms, etiology, and treatment for the condition. Please note that some of the fact sheets describe more than one condition if they are closely related.

Currently being screened for

Argininosuccinic Acidemia (ASA) – Amino Acid Disorder                                             En français

ß-Ketothiolase (BKT) Deficiency – Organic Acid Disorders                                          En français

Biotinidase Deficiency                                                                                             En français

Carnitine Uptake Defect (CUD) – Fatty Acid Oxidation Defect (FAOD)                          En français

Citrullinemia – Amino Acid Disorder                                                                         En français

Congenital Adrenal Hyperplasia (CAH) – Endocrine Disorder

Congenital Hypothyroidism (CH) – Endocrine Disorder                                               En français

Cystic Fibrosis (CF)                                                                                                En français

Galactosemia                                                                                                       En français

Glutaric Acidemia Type I (GAI) – Organic Acid Disorder                                             En français

Hemoglobinopathies : Sickle Cell Disease (HbSS, HbSC or HbS/ß-Thalassemia)           En français

HMG-CoA Lyase Deficiency– Organic Acid Disorder                                                   En français

Homocystinuria – Amino Acid Disorder                                                                     En français

Isovaleric Acidemia (IVA) – Organic Acid Disorder                                                    En français

LCHAD Deficiency – Fatty Acid Oxidation Defect (FAOD)                                            En français

Maple Syrup Urine Disease (MSUD) – Amino Acid Disorder                                        En français

MCAD Deficiency – Fatty Acid Oxidation Defect (FAOD)                                             En français

3-Methylcrotonyl-CoA Carboxylase (3MCC) Deficiency – Organic Acid Disorder           En français

Methylmalonic Acidemia (MUT, Cbl) – Organic Acid Disorders                                     En français

Multiple Carboxylase Deficiency (MCD) – Organic Acid Disorders                                En français

Phenylketonuria (PKU) – Amino Acid Disorder                                                           En français

Propionic Acidemia (PA) – Organic Acid Disorder                                                       En français

Trifunctional Protein (TFP) Deficiency – Fatty Acid Oxidation Defect (FAOD)                 En français

Tyrosinemia (Type I) – Amino Acid Disorder                                                             En français

VLCAD Deficiency – Fatty Acid Oxidation Defect (FAOD)                                            En français

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