Newborn Screening - Medical Provider and Parent Information Sheets
Metabolites | Associated Disorders | Information Sheets | |
|---|---|---|---|
Elevated PHE | Classical Phenylketonuria (PKU), Benign Hyperphenylalaninemia, Defect of Biopterin Cofactor Biosynthesis, Defect of Biopterin Cofactor Regeneration | ||
Elevated VAL and/or Elevated LEU+ILE | Maple Syrup Urine Disease (MSUD) | ||
Elevated MET | Homocystinuria, Hypermethioninemia | ||
Elevated CIT | Citrullinemia I, Cirtullinemia II, Argininosuccinic Aciduria | ||
Elevated SUAC | Tyrosinemia I | ||
Elevated TYR | Tyrosinemia II, Tyrosinemia III | ||
Carbohydrate Metabolism Disorders
Metabolites | Associated Disorders | Information Sheets | |
|---|---|---|---|
Deficient GALT with elevated total galactose | Classical Galactosemia (GALT), Duarte Variant Galactosemia, Galactosemia carrier | ||
Deficient GALT with normal total galactose | Classical Galactosemia (GALT), Duarte Variant Galactosemia, Galactosemia carrier | ||
Elevated total galactose with normal GALT | Galactokinase Deficiency (GALK), Galactose Epimerase Deficiency (GALE) | ||
Low GAA | Pompe carriers and Patients with Pompe Pseudo-deficiency alleles | Medical Provider | |
Very Low or Absent GAA | Pompe Disease | ||
Low IDUA | MPS I carriers and Patients with MPS I Pseudo-deficiency alleles | ||
Very Low or Absent IDUA | Mucopolysaccharidosis type I (MPS type I) Disease | ||
Low GALC (Galactocerebrosidase) enzyme with mildly elevated PSY (Psychosine) | Late Onset Krabbe Disease, Krabbe carriers, and Patients with Krabbe Pseudo-deficiency alleles | Medical Provider Info to follow | Parent Info to follow |
Low to absent GALC (Galactocerebrosidase) enzyme with HIGH PSY (Psychosine) | Infantile Krabbe Disease | ||
Organic Acid Metabolism Disorders
Metabolites | Associated Disorders | Information Sheets | |
|---|---|---|---|
Elevated C3 (Propionyl carnitine) | Propionic Acidemia, Methylmalonic Acidemia-CoA Mutase Deficiency (MUT), Methylmalonic Acidemia-Vit B 12 Disorders (CBL A, B), Methylmalonic Acidemia-Other (CBL C, D) | ||
Elevated C3-DC (Malonyl carnitine) | Malonic Acidemia | ||
Elevated C5 (Isovaleryl carnitine) | Isovaleric Acidemia, 2-methylbutyryl coA Dehydrogenase Deficiency | ||
Elevated C5 OH (3-OH isovaleryl carnitine) | 3-methylcrotonyl coA Carboxylase Deficiency, β-ketothiolase Deficiency, 3-methyl-3-OH-glutaryl coA Lyase Deficiency, 3-methyl-glutaconyl coA Hydratase Deficiency, 2-methyl-3-OH-butyric Aciduria | ||
Elevated C5-DC (Glutaryl carnitine) | Glutaric Aciduria I | ||
Fatty Acid Metabolism Disorders
Metabolites | Associated Disorders | Information Sheets | |
|---|---|---|---|
Elevated C8 (Octanoyl carnitine) | Medium Chain Acyl coA Dehydrogenase Deficiency, Medium Chain Ketoacyl coA Thiolase Deficiency | ||
Elevated C10:2 (Decadienoyl carnitine) | Dienoyl coA Reductase Deficiency | ||
Elevated C16 OH (3-OH palmitoyl carnitine) | Long Chain 3-OH coA Dehydrogenase Deficiency, Trifunctional Protein Deficiency | ||
Elevated C14:1 (Tetradecenoyl carnitine) | Very Long Chain Acyl coA Dehydrogenase Deficiency | ||
Elevated C4 and Elevated C5 | Multiple Acyl coA Dehydrogenase Deficiency (also called Glutaric Aciduria II) | ||
Low Free Carnitine | Carnitine Uptake/Transport Deficiency | ||
Elevated Free Carnitine/C16 (Palmitoyl carnitine) + C18 (Stearoyl carnitine) | Carnitine Palmitoyl Transferase I Deficiency | ||
Elevated C16 and Elevated C18:1 (Oleyl carnitine) | Carnitine Palmitoyl Transferase II Deficiency, Carnitine/Acylcarnitine Translocase Deficiency | ||
Hormone and Enzyme Disorders
Metabolites | Associated Disorders | Information Sheets | |
|---|---|---|---|
Elevated TSH (Thyroid Stimulating Hormone) | Congenital Hypothyroidism | ||
Elevated 17-OH Progesterone | Congenital Adrenal Hyperplasia | ||
Deficient Biotinidase | Biotinidase Deficiency | ||
Other Genetic Disorders
Metabolites | Associated Disorders | Information Sheets | |
|---|---|---|---|
Elevated Immunoreactive Trypsinogen (IRT) | Cystic Fibrosis | ||
Abnormal Hemoglobin | Sickle Cell Disease, Sickle C Disease, Sickle β Thalassemia, Variant Hemoglobinopathy Disorders and Traits (including Sickle Cell Trait) | ||
Decreased (copies) of TRECs | Severe Combined Immunodeficiency and Related Disorders | ||
Survival Motor Neuron 1 | Spinal Muscle Atrophy (SMA) | ||