Information About Parents' Fact Sheets
What is Newborn Screening?
The STAR-G Project has put together fact sheets about disorders commonly screened for by expanded newborn screening. The fact sheets were written specifically for families that have received an initial diagnosis of one of the disorders and want to know more general information. They address issues and answer questions that are of particular concern to parents.You are welcome to view these fact sheets--however, please remember that the fact sheets were written for informational purposes only. The fact sheets should not be a substitute for professional medical advice, diagnosis or treatment.
Each fact sheet was extensively reviewed by the STAR-G Project's Steering and Education committees, by metabolic specialists from across the U.S. , and by family support groups. More detail about the creation and review of the fact sheets can be found in the flow charts below:
Please Help!
If you have used the parent fact sheets above, please click on the link below to complete a short survey. Your responses will help us justify our work to update and maintain the information in the fact sheets. Thank you!
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)