OAA has played a pivotal role in supporting the addition of organic acidemias to newborn screening. Today, the Recommended Uniform Screening Panel (RUSP) includes nine different organic acidemias: 3-Hydroxy-3-methyglutaric aciduria, 3-Methylcrotonyl-CoA carboxylase deficiency, β-ketothiolase deficiency (BKT), Glutaric acidemia type 1 (GA-1), Holocarboxylase synthase deficiency, Isovaleric Acidemia (IVA), Methylmalonic acidemia (both cobalamin and methylmalonyl-CoA mutase forms), and Propionic Acidemia (PA). The conditions listed in the RUSP panel are included in newborn screening in all states. Newborn screening is funded and managed by individual state health departments, so some states like New York, California, New Mexico, and North Dakota include additional organic acidemias with an expanded newborn screening panel. 

Find out what your state screens for here.

How Screening Works

Newborn screening for organic acid disorders involves a laboratory technique called MS/MS that detects the levels of specific organic acidemia biomarkers in blood samples. Clinicians collect blood spot samples by pricking the newborn’s heel. Samples are sent to a regional testing lab and your primary care physician will be notified of the results in 5-7 days. If you don’t hear from your primary care provider, then you likely did not screen positive for any of the conditions in the newborn screening panel. The process is laid out nicely in this March of Dimes infographic.

Visit this site to find out more about blood spot samples including how they are collected and stored. 

Support

If you or a loved one have lost a child, the Sudden Infant Death Syndrome Network or Sudden Unexplained Death in Childhood (SUDC) organizations can be helpful resources.