The Newborn Examination and Newborn Screening /

Expanded new born screening tests

01 What Others Say


AN extensive series of fact sheets are available for list see below of parent fact sheets on newborn screening from STAR-G


  • Argininemia/arginase deficiency
  • ASAL (argininosuccinyl-CoA lyase deficiency)
  • ASAS (citrullinemia/Argininosuccinate synthetase deficiency)
  • CBS (homocystinemia/cystathionine beta-synthase deficiency)
  • MSUD (maple syrup urine disease)
  • PKU (phenylketonuria)
  • Tyrosinemia


  • Carnitine transporter deficiency
  • CAT (carnitine/acylcarnitine translocase deficiency)
  • CPT-1 (carnitine palmitoyl transferase deficiency-type 1)
  • CPT-2 (carnitine palmitoyl transferase deficiency-type 2)
  • GA-2 (glutaric acidemia-type 2)
  • LCHADD (long chain 3-hydroxyacyl-CoA dehydrogenase deficiency)
  • MCADD (medium chain acyl-CoA dehydrogenase deficiency)
  • SCADD (short chain acyl-CoA dehydrogenase deficiency)
  • SCHADD (short chain 3-hydroxyacyl-CoA dehydrogenase deficiency)
  • TFP (trifunctional protein deficiency)
  • VLCADD (very long chain acyl-CoA dehydrogenase deficiency)


  • BKD (beta-ketothiolase deficiency)
  • GA-1 (glutaric acidemia type-1)
  • GA-2 (glutaric acidemia type-2)
  • HCSD (holocarboxylase synthetase deficiency)
  • HMGCoA (3-hydroxy-3-methylglutaryl-CoA lyase deficiency)
  • Isobutyryl-CoA dehydrogenase deficiency
  • IVA (isovaleric acidemia)
  • MMA (methylmalonic acidemia)
  • MMA+HCU (Methylmalonic Acidemia with Homocystinuria)
  • PA (propionic acidemia)
  • 3MCC (3-methylcrotonyl-CoA carboxylase deficiency)
  • 2MBC (2-methylbutyryl-CoA dehydrogenase deficiency)


  • CAH (Congenital Adrenal Hyperplasia)
  • CH (Congenital Hypothyroidism)
  • CF (Cystic Fibrosis)
  • Galactosemia (GALT deficiency)
  • Alpha Thalassemia
  • Sickle Cell Disease


The Screening, Technology And Research in Genetics (STAR-G) Project began as a multi-state collaborative effort, led by the Hawai`i Department of Health, to obtain research data, identify strategies and develop materials for addressing the financial, ethical, legal and social issues (FELSI) surrounding the use of MS/MS for neonatal metabolic screening of culturally and ethnically diverse populations. The project was funded by the Health Resources and Services Administration (HRSA) through a Special Projects of Regional and National Significance (SPRANS) grant

Who are STAR-G go to 


The information published here has been reviewed by Flourish Paediatrics and represents the available published literature at the time of review.
The information is not intended to take the place of medical advice.
Please seek advice from a qualified healthcare professional.
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Last updated: 16/01/2011