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