Information on diseases

In 2006 the American College of Medical Genetics (ACMG) produced a report entitled Newborn Screening: Toward a Uniform Screening Panel and System. The report was the outcome of commissioned work to scientifically assess a number of conditions or diseases, in order to determine their appropriateness for newborn screening in the USA. 84 conditions were chosen for consideration, although there are many hundreds of metabolic diseases.

Some of the criteria used in this analysis and assessment included

• Can the condition be detected in a newborn infant at birth (generally accepted as between 24-48 hours after birth)?

• Do we know sufficient about the condition, the natural history of the condition and the clinical characteristics?

• Is there a test with sufficient sensitivity and specificity available for it?

• Are there demonstrated benefits from early detection, timely intervention and effective treatment of the condition?

As a result of this work the ACMG recommended a list of 29 'core' conditions that were recommended for newborn screening, together with a 'secondary' list of 25 conditions that are part of the different diagnosis of a core panel condition.

Subsequent to the publication of the report, the Government of the United States of America has signed 'The SHINE Act' ensuring that all babies born in hospitals in the United States should have access to and be screened for at least the 29 'core' conditions.

Save Babies Through Screening Foundation UK believes that all babies born in the UK should similarly have that same access. We are advocating the extension of newborn screening in the UK to many more than the five we currently screen for.

The list of the diseases covered is shown below. With thanks to the American College of Medical Genetics for the use of information from their Executive Summary to the Report.

You can download the Newborn Screening Executive Summary here, and the full report here.

You can find more information on the conditions shown below on our sister site, Save Babies Through Screening Foundation Inc.

Core conditions

• 3-Methylcrotonyl-CoA carboxylase deficiency = 3MCC

• Argininosuccinic acidemia = ASA

• Beta-Ketothiolase deficiency = BKT

• Biotinidase deficiency = BIOT

• Carnitine uptake defect = CUD

• Citrullinemia = CIT

• Classical galactosemia = GALT

• Congenital adrenal hyperplasia = CAH

• Congenital hypothyroidism = CH

• Cystic fibrosis = CF

• Glutaric acidemia type I = GA1

• Hb S/Beta-Thalassemia = HBSA

• Hb S/C disease = HbSC

• Hearing loss = HEAR

• Homocystinuria = HCY

• Hydroxymethylglutaric aciduria or HMG-CoA lyase deficiency or 3-OH 3-CH3 glutaric aciduria = HMG

• Isovaleric acidemia = IVA

• Long-chain 3-OH acyl-CoA dehydrogenase deficiency = LCHAD

• Maple syrup urine disease = MSUD

• Medium-chain acyl-CoA dehydrogenase deficiency = MCAD

• Methylmalonic acidemia cblA and cblB forms = CBLAB

• Methylmalonic acidemia due to mutase deficiency = MUT

• Multiple carboxylase deficiency = MCD

• Phenylketonuria = PKU

• Propionic acidemia = PROP

• Sickle cell anemia = HBSS

• Trifunctional protein deficiency = TFP

• Tyrosinemia type I = TYR1

• Very long-chain acyl-CoA dehydrogenase deficiency = VLCAD

Secondary conditions

• 2-Methyl 3-hydroxy butyric aciduria (2M3HBA)

• 2-Methylbutyryl-CoA dehydrogenase deficiency (2MBG)

• Argininemia (ARG)

• Biopterin cofactor biosynthesis, defects of (BIOPT BS)

• Biopterin cofactor regeneration, ects of (BIOPT REG)

• Carnitine palmitoyltransferase I deficiency (liver) (CPT IA)

• Carnitine palmitoyltransferase II deficiency (CPT II)

• Carnitine: acylcarnitine translocase deficiency (CACT)

• Citrullinemia type II (CIT II)

• Dienoyl-CoA reductase deficiency (DE RED)

• Galactokinase deficiency (GALK)

• Galactose epimerase deficiency (GALE)

• Glutaric acidemia Type II (GA 2)

• Hypermethioninemia (MET)

• Hyperphenylalaninemia, benign (H-PHE)

• Isobutyryl-CoA dehydrogenase deficiency (IBG)

• Malonic acidemia (MAL)

• Medium/short-chain L-3-OH acyl-CoA dehydrogenase deficiency (M/SCHADD)

• Medium-chain ketoacyl-CoA thiolase deficiency (MCKAT)

• Methylmalonic acidemia (Cbl C,D) (Cbl C,D)

• Short-chain acyl-CoA dehydrogenase deficiency (SCADD)

• Tyrosinemia type II (TYR II)

• Tyrosinemia type III (TYR III)

• Variant Hb-pathies (including HB E) (Var Hb)

Additional Disorders

• Unclassified Fatty Acid Oxidation Disorders (U-FAOD)

Other Abnormal Profiles

• Hyperalimentation (TPN)

• Liver Disease

• Medium Chain Triglyceride (MCT)

• Oil Administration Presence of EDTA

• Anticoagulants in Blood Specimen

• Treatment with Benzoate, Pyvalic Acid or Valproic Acid

• Krabbe's Disease