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
AMINO ACID DISORDERS
- 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
FATTY ACID OXIDATION DISORDERS
- 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)
ORGANIC ACID DISORDERS
- 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)
OTHER DISORDERS
- CAH (Congenital Adrenal Hyperplasia)
- CH (Congenital Hypothyroidism)
- CF (Cystic Fibrosis)
- Galactosemia (GALT deficiency)
- Alpha Thalassemia
- Sickle Cell Disease
ABOUT STAR-G
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
The information is not intended to take the place of medical advice.
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Last updated: 16/01/2011