Newborn Screening: Carnitine Palmitoyltransferase 1A (CPT1A) Deficiency

Background

Carnitine palmitoyltransferase 1A (CPT1A) deficiency is a disorder that prevents the body from using certain fats for energy. Signs and symptoms often appear during early childhood.

Some of these symptoms include:

  • Low blood sugar (hypoglycemia)
  • Liver dysfunction, including abnormal enlargement (hepatomegaly) and liver failure
  • Brain dysfunction (encephalopathy)

The severity of the condition varies. In an affected person, problems related to CPT1A often are triggered by significantly reduced food intake due to illness, such as a viral infection, or when fasting for an extended period of time. Studies have found evidence that associates CPT1A with increased risk of infant mortality.

Prior to showing signs or symptoms of the disease, newborns will typically have normal growth and development.

Source: Gessner BD, Wood T, Johnson MA et al. Evidence for an association between infant mortality and homozygosity for the artic variant of carnitine palmitoyltransferase 1A. Genet Med 2016 18:933 and Bennett MJ and Santani AB. Carnitine Palmitoyltransferase 1A Deficiency. Pagon RA, Adam MP, Ardinger HH et al. editors. GeneReviews. Seattle (WA): University of Washington, Seattle 1993-2016.

Nomination Process

  • The Wisconsin Newborn Screening Metabolic Subcommittee submitted the nomination of CPT1A. The Metabolic Subcommittee considered the nomination during a meeting on Jan. 27, 2017, and recommended adding CPT1A to the Wisconsin Newborn Screening (NBS) panel. The subcommittee forwarded their recommendation to the Umbrella Committee.
  • The Newborn Screening Umbrella Committee considered the nomination on May 5, 2017, and recommended adding CPT1A to the NBS panel of conditions. The Umbrella Committee forwarded their recommendation to the Secretary's Advisory Committee on Newborn Screening.
  • The Secretary's Advisory Committee on Newborn Screening (SACNBS) considered the nomination on Oct. 12, 2017, and forwarded a recommendation (a report) to the Secretary of the Department of Health Services in support of adding CPT1A to the NBS panel of conditions.
  • The Secretary approved the recommendation for the addition of CPT1A to the NBS panel of conditions on March 22, 2018.

If you have questions about the CPT1A nomination process, please contact the Newborn Screening Program.

Return to Newborn Screening.

Last Revised: June 8, 2020