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Disorders Screened

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Disorder Fact Sheets

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Newborn Screening

Disorder Fact Sheets

The following fact sheets are for health care providers only and outline the clinical features of each disorder screened by the Ontario Newborn Screening Program.

Fact Sheets

Currently being screened for

Argininosuccinic Acidemia (ASA) – Amino Acid Disorder

Biotinidase Deficiency

ß-Ketothiolase (BKT) Deficiency – Organic Acid Disorders

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

Cystic Fibrosis (CF)

Citrullinemia – Amino Acid Disorder

Congenital Hypothyroidism (CH) – Endocrine Disorder

Galactosemia

Glutaric Acidemia Type I (GAI) – Organic Acid Disorder

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

HMG-CoA Lyase Deficiency– Organic Acid Disorder

Homocystinuria – Amino Acid Disorder

Isovaleric Acidemia (IVA) – Organic Acid Disorder

LCHAD Deficiency – Fatty Acid Oxidation Defect (FAOD)

Maple Syrup Urine Disease (MSUD) – Amino Acid Disorder

MCAD Deficiency – Fatty Acid Oxidation Defect (FAOD)

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

Methylmalonic Acidemia (MUT, Cbl) – Organic Acid Disorders

Multiple Carboxylase Deficiency (MCD) – Organic Acid Disorders

Phenylketonuria (PKU) – Amino Acid Disorder

Propionic Acidemia (PA) – Organic Acid Disorder

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

Tyrosinemia (Type I) – Amino Acid Disorder

VLCAD Deficiency – Fatty Acid Oxidation Defect (FAOD)

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