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Newborn Screening: Carnitine Palmitoyltransferase 1A Deficiency—Newborn Screening Panel Nomination

Wisconsin health care providers can nominate a condition to add to the Wisconsin newborn screening panel. The panel is part of the Wisconsin Newborn Screening program.

The purpose of this page is to show providers the nomination process for carnitine palmitoyltransferase 1A (CPT1A) deficiency.

What is CPT1A deficiency

CPT1A deficiency is a disorder that prevents the body from using certain fats for energy. Newborns with CPT1A often grow and develop normally before showing any signs or symptoms. Signs and symptoms often show up in early childhood. Some include:

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

How severe CPT1A deficiency is can vary. Problems are often triggered by reducing food intake due to illness, such as a viral infection, or fasting for a long time. Studies have linked CPT1A with a higher risk of infant mortality.

Nomination process for CPT1A deficiency

The following timeline outlines the newborn screening panel nomination process:

  • April 6, 2017—The Wisconsin Newborn Screening Metabolic Subcommittee submitted a nomination to add CPT1A deficiency to the newborn screening panel. (PDF) They forwarded their recommendation to the Wisconsin Newborn Screening Umbrella Committee.
  • May 5, 2017—The Wisconsin Newborn Screening Umbrella Committee adopted the recommendation. They forwarded it to the Secretary’s Advisory Committee on Newborn Screening.
  • Oct. 12, 2017—The Secretary’s Advisory Committee on Newborn Screening considered the nomination. They forwarded a Report on Nomination to Newborn Screening for CPTA1 Deficiency in Wisconsin (PDF) to the Wisconsin Department of Health Services (DHS) Secretary in support.
  • October 2019—CPT1A deficiency was added to the Wisconsin Newborn Screening Panel by emergency rule.
  • January 2020—CPT1A deficiency was added to the Wisconsin Newborn Screening Panel by permanent rule.

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Last revised March 27, 2023