Newborn Screening: Medical Provider and Parent Information Sheets

MetabolitesAssociated DisordersInformation Sheets
Elevated PHEClassical Phenylketonuria (PKU), Benign Hyperphenylalaninemia, Defect of Biopterin Cofactor Biosynthesis, Defect of Biopterin Cofactor RegenerationMedical Provider InfoParent Info
Elevated VAL and/or Elevated LEU+ILEMaple Syrup Urine Disease (MSUD)Medical Provider InfoParent Info
Elevated METHomocystinuria, HypermethioninemiaMedical Provider InfoParent Info
Elevated CITCitrullinemia I, Cirtullinemia II, Argininosuccinic AciduriaMedical Provider InfoParent Info
Elevated SUACTyrosinemia IMedical Provider Info for TYR I

Medical Provider Info for Unknown SUAC
Parent Info
Elevated TYRTyrosinemia II, Tyrosinemia IIIMedical Provider InfoParent Info

 

Carbohydrate Metabolism Disorders

MetabolitesAssociated DisordersInformation Sheets
Deficient GALT with elevated total galactoseClassical Galactosemia (GALT), Duarte Variant Galactosemia, Galactosemia carrierMedical Provider InfoParent Info
Deficient GALT with normal total galactoseClassical Galactosemia (GALT), Duarte Variant Galactosemia, Galactosemia carrierMedical Provider InfoParent Info
Elevated total galactose with normal GALTGalactokinase Deficiency (GALK), Galactose Epimerase Deficiency (GALE)Medical Provider InfoParent Info
Low GAA
(Acid alpha-glucosidase)
Pompe carriers and Patients with Pompe Pseudo-deficiency allelesMedical Provider
Info to follow
Pompe Carrier Parent Info

Pompe Pseudo-deficiency Parent Info
Very Low or Absent GAA
(Acid alpha-glucosidase)
Pompe DiseaseMedical Provider InfoParent Info
Low IDUA
(alpha-L-iduronidase)
 
MPS I carriers and Patients with MPS I Pseudo-deficiency alleles
 
Medical Provider InfoMPS I Carrier Parent Info

MPS I Pseudo-deficiency Parent Info
Very Low or Absent IDUA
(alpha-L-iduronidase)
 
Mucopolysaccharidosis type I (MPS type I) Disease
 
Medical Provider InfoParent Info
Low GALC (Galactocerebrosidase) enzyme with mildly elevated PSY (Psychosine)Late Onset Krabbe Disease, Krabbe carriers, and Patients with Krabbe Pseudo-deficiency allelesMedical Provider Info to followParent Info to follow
Low to absent GALC (Galactocerebrosidase) enzyme with HIGH PSY (Psychosine)Infantile Krabbe DiseaseMedical Provider InfoParent Info

 

Organic Acid Metabolism Disorders

MetabolitesAssociated DisordersInformation 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)Medical Provider InfoParent Info
Elevated C3-DC (Malonyl carnitine)Malonic AcidemiaMedical Provider InfoParent Info
Elevated C5 (Isovaleryl carnitine)Isovaleric Acidemia, 2-methylbutyryl coA Dehydrogenase DeficiencyMedical Provider InfoParent Info
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 AciduriaMedical Provider InfoParent Info
Elevated C5-DC (Glutaryl carnitine)Glutaric Aciduria IMedical Provider InfoParent Info

 

Fatty Acid Metabolism Disorders

MetabolitesAssociated DisordersInformation Sheets
Elevated C8 (Octanoyl carnitine)Medium Chain Acyl coA Dehydrogenase Deficiency, Medium Chain Ketoacyl coA Thiolase DeficiencyMedical Provider InfoParent Info
Elevated C10:2 (Decadienoyl carnitine)Dienoyl coA Reductase DeficiencyMedical Provider InfoParent Info
Elevated C16 OH (3-OH palmitoyl carnitine)Long Chain 3-OH coA Dehydrogenase Deficiency, Trifunctional Protein DeficiencyMedical Provider InfoParent Info
Elevated C14:1 (Tetradecenoyl carnitine)Very Long Chain Acyl coA Dehydrogenase DeficiencyMedical Provider InfoParent Info
Elevated C4 and Elevated C5Multiple Acyl coA Dehydrogenase Deficiency (also called Glutaric Aciduria II)Medical Provider InfoParent Info
Low Free CarnitineCarnitine Uptake/Transport DeficiencyMedical Provider InfoParent Info
Elevated Free Carnitine/C16 (Palmitoyl carnitine) + C18 (Stearoyl carnitine)Carnitine Palmitoyl Transferase I DeficiencyMedical Provider InfoParent Info
Elevated C16 and Elevated C18:1 (Oleyl carnitine)Carnitine Palmitoyl Transferase II Deficiency, Carnitine/Acylcarnitine Translocase DeficiencyMedical Provider InfoParent Info

 

Hormone and Enzyme Disorders

MetabolitesAssociated DisordersInformation Sheets
Elevated TSH (Thyroid Stimulating Hormone)Congenital HypothyroidismMedical Provider InfoParent Info
Elevated 17-OH ProgesteroneCongenital Adrenal HyperplasiaMedical Provider InfoParent Info
Deficient BiotinidaseBiotinidase DeficiencyMedical Provider InfoParent Info

 

Other Genetic Disorders

MetabolitesAssociated DisordersInformation Sheets
Elevated Immunoreactive Trypsinogen (IRT)Cystic FibrosisMedical Provider InfoParent Info
Abnormal HemoglobinSickle Cell Disease, Sickle C Disease, Sickle β Thalassemia, Variant Hemoglobinopathy Disorders and Traits (including Sickle Cell Trait)Medical Provider InfoParent Info
Decreased (copies) of TRECsSevere Combined Immunodeficiency and Related DisordersMedical Provider InfoParent Info
Survival Motor Neuron 1Spinal Muscle Atrophy (SMA)Medical Provider InfoParent Info
Tags
Health
Newborns