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Newborn Metabolic Screening

Medical Provider and Parent Information Sheets

 

Amino Acid Metabolism Disorders

Metabolites

Associated Disorders

Information Sheets (pdf)

Elevated PHE

Classical Phenylketonuria (PKU), Benign Hyperphenylalaninemia, Defect of Biopterin Cofactor Biosynthesis, Defect of Biopterin Cofactor Regeneration

Medical Provider Info

Parent Info

Elevated VAL and/or Elevated LEU+ILE

Maple Syrup Urine Disease (MSUD)

Medical Provider Info

Parent Info

Elevated MET

Homocystinuria, Hypermethioninemia

Medical Provider Info

Parent Info

Elevated CIT

Citrullinemia I, Cirtullinemia II, Argininosuccinic Aciduria

Medical Provider Info

Parent Info

Elevated SUAC

Tyrosinemia I

Medical Provider Info

Parent Info

Elevated TYR

Tyrosinemia II, Tyrosinemia III

Medical Provider Info

Medical Provider Info

Parent Info

 

Carbohydate Metabolism Disorders

Metabolites

Associated Disorders

Information Sheets

Deficient GALT with elevated total galactose

Classical Galactosemia (GALT), Duarte Variant Galactosemia, Galactosemia carrier

Medical Provider Info

Parent Info

Deficient GALT with normal total galactose

Classical Galactosemia (GALT), Duarte Variant Galactosemia, Galactosemia carrier

Medical Provider Info

Parent Info

Elevated total galactose with normal GALT

Galactokinase Deficiency (GALK), Galactose Epimerase Deficiency (GALE)

Medical Provider Info (pdf)

Parent Info (pdf)

 

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 Info

Parent Info

Elevated C3-DC (Malonyl carnitine)

Malonic Acidemia

Medical Provider Info

Parent Info

Elevated C4 (Butyryl carnitine)

Isobutyryl coA Dehydrogenase Deficiency

Medical Provider Info

Parent Info

Elevated C5 (Isovaleryl carnitine)

Isovaleric Acidemia, 2-methylbutyryl coA Dehydrogenase Deficiency

Medical Provider Info

Parent 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 Aciduria

Medical Provider Info

Parent Info

Elevated C3 and Elevated C5 OH

Multiple Carboxylase Deficiency

Medical Provider Info

Parent Info

Elevated C5-DC (Glutaryl carnitine)

Glutaric Aciduria I

Medical Provider Info

Parent Info

 

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 Info

Parent Info

Elevated C4 (Butyryl carnitine)

Short Chain Acyl coA Dehydrogenase Deficiency

Medical Provider Info

Parent Info

Elevated C4 OH (3-OH butyryl carnitine)

Medium and Short Chain 3-OH Acyl coA Dehydrogenase Deficiency

Medical Provider Info

Parent Info

Elevated C10:2 (Decadienoyl carnitine)

Dienoyl coA Reductase Deficiency

Medical Provider Info

Parent Info

Elevated C16 OH (3-OH palmitoyl carnitine)

Long Chain 3-OH coA Dehydrogenase Deficiency, Trifunctional Protein Deficiency

Medical Provider Info

Parent Info

Elevated C14:1 (Tetradecenoyl carnitine)

Very Long Chain Acyl coA Dehydrogenase Deficiency

Medical Provider Info

Parent Info

Elevated C4 and Elevated C5

Multiple Acyl coA Dehydrogenase Deficiency (also called Glutaric Aciduria II)

Medical Provider Info

Parent Info

Low Free Carnitine

Carnitine Uptake/Transport Deficiency

Medical Provider Info

Parent Info

Elevated Free Carnitine/C16 (Palmitoyl carnitine) + C18 (Stearoyl carnitine)

Carnitine Palmitoyl Transferase I Deficiency

Medical Provider Info

Parent Info

Elevated C16 and Elevated C18:1 (Oleyl carnitine)

Carnitine Palmitoyl Transferase II Deficiency, Carnitine/Acylcarnitine Translocase Deficiency

Medical Provider Info

Parent Info

 

Hormone and Enzyme Disorders

Metabolites

Associated Disorders

Information Sheets (pdf)

Low T4 (Thyroxine) and/or Elevated TSH (Thyroid Stimulating Hormone)

Congenital Hypothyroidism

Medical Provider Info

Medical Provider Info

Parent Info

Parent Info

Elevated 17-OH Progesterone

Congenital Adrenal Hyperplasia

Medical Provider Info

Parent Info

Deficient Biotinidase

Biotinidase Deficiency

Medical Provider Info

Parent Info

 

Other Genetic Disorders

Metabolites

Associated Disorders

Information Sheets (pdf)

Elevated Immunoreactive Trypsinogen (IRT)

Cystic Fibrosis

Medical Provider Info

Parent Info

Abnormal Hemoglobin

Sickle Cell Disease, Sickle C Disease, Sickle β Thalassemia, Variant Hemoglobinopathy Disorders and Traits (including Sickle Cell Trait)

Medical Provider Info

Parent Info