Newborn Screening: Medical Provider and Parent Information Sheets
Amino Acid Disorders
| Abnormal Finding | Associated Disorders | Information Sheets (pdf) | |
|---|---|---|---|
| Elevated Phenylalanine (PHE) | Phenylketonuria (PKU), Benign Hyperphenylalaninemia, Defect of Biopterin Cofactor Biosynthesis, Defect of Biopterin Cofactor Regeneration | Medical Provider | Parent |
| Elevated Valine (VAL) and/or Elevated Leucine/Isoleucine (LEU+ILE) | Maple Syrup Urine Disease (MSUD) | Medical Provider | Parent |
| Elevated Methionine (MET) | Homocystinuria, Hypermethioninemia | Medical Provider | Parent |
| Elevated Citrulline (CIT) | Citrullinemia I, Cirtullinemia II, Argininosuccinic Aciduria | Medical Provider | Parent |
| Elevated Argininosuccinic Acid (ASA) | Argininosuccinic Aciduria | Medical Provider Info to follow | Parent Info to follow |
| Elevated Arginine (ARG) | Argininemia (Arginase deficiency) | Medical Provider Info to follow | Parent Info to follow |
| Elevated Succinyl acetone (SUAC) | Tyrosinemia I | Medical Provider Info for TYR I Medical Provider Info for Unknown SUAC | Parent |
| Elevated Tyrosine (TYR) | Transient Tyrosinemia, Tyrosinemia II, Tyrosinemia III | Medical Provider | Parent |
Carbohydrate Metabolism Disorders
| Metabolites | Associated Disorders | Information Sheets (pdf) | |
|---|---|---|---|
| Deficient GALT with elevated total galactose | Classical Galactosemia (GALT), Duarte Variant Galactosemia, Galactosemia carrier | Medical Provider | Parent |
| Deficient GALT with normal total galactose | Classical Galactosemia (GALT), Duarte Variant Galactosemia, Galactosemia carrier | Medical Provider | Parent |
| Elevated total galactose with normal GALT | Galactokinase Deficiency (GALK), Galactose Epimerase Deficiency (GALE) | Medical Provider | Parent |
| Low GAA (Acid alpha-glucosidase) | Pompe carriers and Patients with Pompe Pseudo-deficiency alleles | Medical Provider | Pompe Carrier Parent Pompe Pseudo-deficiency Parent |
| Very Low or Absent GAA (Acid alpha-glucosidase) | Pompe Disease | Medical Provider | Parent |
| Low IDUA (alpha-L-iduronidase) | MPS I carriers and Patients with MPS I Pseudo-deficiency alleles | Medical Provider | MPS I Carrier Parent MPS I Pseudo-deficiency Parent |
| Very Low or Absent IDUA (alpha-L-iduronidase) | Mucopolysaccharidosis type I (MPS type I) Disease | Medical Provider | Parent |
| Low GALC (Galactocerebrosidase) enzyme with mildly elevated PSY (Psychosine) | Late Onset Krabbe Disease, Krabbe carriers, and Patients with Krabbe Pseudo-deficiency alleles | Medical Provider | Parent Info to follow |
| Low to absent GALC (Galactocerebrosidase) enzyme with HIGH PSY (Psychosine) | Infantile Krabbe Disease | Medical Provider | Parent |
Organic Acid Metabolism Disorders
| Metabolites | Associated Disorders | Information Sheets (pdf) | |
|---|---|---|---|
| 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) | Medical Provider | Parent |
| Elevated C3-DC (Malonyl carnitine) | Malonic Acidemia | Medical Provider | Parent |
| Elevated C5 (Isovaleryl carnitine) | Isovaleric Acidemia, 2-methylbutyryl coA Dehydrogenase Deficiency | Medical Provider | Parent |
| 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 | Medical Provider | Parent |
| Elevated C5-DC (Glutaryl carnitine) | Glutaric Aciduria I | Medical Provider | Parent |
Fatty Acid Metabolism Disorders
| Metabolites | Associated Disorders | Information Sheets (pdf) | |
|---|---|---|---|
| Elevated C8 (Octanoyl carnitine) | Medium Chain Acyl coA Dehydrogenase Deficiency, Medium Chain Ketoacyl coA Thiolase Deficiency | Medical Provider | Parent |
| Elevated C10:2 (Decadienoyl carnitine) | Dienoyl coA Reductase Deficiency | Medical Provider | Parent |
| Elevated C16 OH (3-OH palmitoyl carnitine) | Long Chain 3-OH coA Dehydrogenase Deficiency, Trifunctional Protein Deficiency | Medical Provider | Parent |
| Elevated C14:1 (Tetradecenoyl carnitine) | Very Long Chain Acyl coA Dehydrogenase Deficiency | Medical Provider | Parent |
| Elevated C4 and Elevated C5 | Multiple Acyl coA Dehydrogenase Deficiency (also called Glutaric Aciduria II) | Medical Provider | Parent |
| Low Free Carnitine | Carnitine Uptake/Transport Deficiency | Medical Provider | Parent |
| Elevated Free Carnitine/C16 (Palmitoyl carnitine) + C18 (Stearoyl carnitine) | Carnitine Palmitoyl Transferase I Deficiency | Medical Provider | Parent |
| Elevated C16 and Elevated C18:1 (Oleyl carnitine) | Carnitine Palmitoyl Transferase II Deficiency, Carnitine/Acylcarnitine Translocase Deficiency | Medical Provider | Parent |
Hormone and Enzyme Disorders
| Metabolites | Associated Disorders | Information Sheets (pdf) | |
|---|---|---|---|
| Elevated TSH (Thyroid Stimulating Hormone) | Congenital Hypothyroidism | Medical Provider | Parent |
| Elevated 17-OH Progesterone | Congenital Adrenal Hyperplasia | Medical Provider | Parent |
| Deficient Biotinidase | Biotinidase Deficiency | Medical Provider | Parent |
Other Genetic Disorders
| Abnormal Finding | Associated Disorders | Information Sheets (pdf) | |
|---|---|---|---|
| Elevated Immunoreactive Trypsinogen (IRT) and Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) molecular | Cystic Fibrosis, CF carriers, and CFTR-Related Metabolic Syndrome (CRMS) | Medical Provider | Parent |
| Abnormal Hemoglobin | Sickle Cell Disease, Sickle C Disease, Sickle β Thalassemia, Variant Hemoglobin Disorders and Traits (including Sickle Cell Trait) | Medical Provider | Parent |
| Decreased T-cell Receptor Excision Circles (TRECs) | Severe Combined Immunodeficiency and Related Disorders | Medical Provider | Parent |
| Absent Survival Motor Neuron 1 (SMN 1) | Spinal Muscle Atrophy (SMA) | Medical Provider | Parent |
| Elevated C26 LPC and ABCD1 molecular | X-linked Adrenoleukodystrophy (X-ALD) and female carriers | Medical Provider Info to follow | Parent Info to follow |
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Health
Newborns