Carnitine palmitoyl transferase deficiency, type 1A (CPT 1)
Carnitine palmitoyl transferase 1 deficiency
CPT 1 liver
Initial signs/symptoms typically begin suddenly in association with an illness between eight and eighteen months of life and may be life-threatening. They usually include:
- poor appetite,
- lab findings:
- elevated transaminases,
- metabolic acidosis, and
- Contact the family and evaluate the infant for lethargy, poor feeding, or hepatomegaly;
- Provide emergency treatment/referral for symptoms of hypoglycemia, lethargy, or seizures;
- To confirm the diagnosis, work with the following service(s): see all Newborn Screening Programs services providers (3) in our database;
- For evaluation and ongoing collaborative management, consult the following service(s): Pediatric Medical Genetics, (801-213-3599); See also Services below;
- Educate the family regarding signs, symptoms, and the need to avoid fasting and to seek urgent care when the infant becomes ill (see CPT1 Deficiency - Information for Parents (STAR-G) for additional information);
- Provide a letter and, when old enough, a MedicAlert bracelet indicating the risk for hypoglycemia and need for urgent treatment with IV glucose when illness or stress lead to symptoms;
- Frequent, low fat, and high carbohydrate meals and snacks and, for infants, cornstarch feedings at night as a slow-release carbohydrate source;
- Medium Chain Triglyceride (MCT) oil supplements may be indicated for some children;
- For those identified after irreversible consequences, assist in management, particularly with developmental and educational interventions.
CPT1 Deficiency - Information for Professionals (STAR-G)
Structured list of information about the condition and links to more information; Screening, Technology, and Research in Genetics.
ACT Sheet for CPT1 Deficiency (ACMG) ( 344 KB)
Contains short-term recommendations for clinical follow-up of the newborn who has screened positive; American College of Medical Genetics.
Newborn Screening ACT Sheets & Confirmatory Algorithms (ACMG)
ACTion (ACT) Sheets and algorithms for responding to positive newborn screening test results, membership required; American College of Medical Genetics.
CPT1 Deficiency (GeneReviews)
Excellent review by Michael J Bennett, PhD, FRCPath, DABCC and Srinivas B Narayan, PhD, including clinical description, differential, management, genetic counseling, molecular genetics, and a bibliography.
Resources for CPT1 Deficiency (Disease InfoSearch)
Compilation of information, articles, research, case studies, and genetics links; from Genetic Alliance.
Genetics in Primary Care Institute (AAP)
The goal of this site is to increase collaboration in the care of children with known or suspected genetic disorders. It includes health supervision guidelines and other useful resources; represents a collaboration among the Health Resources & Services Administration, the Maternal and Child Health Bureau, and the American Academy of Pediatrics.
CPT1 Deficiency - Information for Parents (STAR-G)
A fact sheet, written by a genetic counselor and reviewed by metabolic and genetic specialists, for families who have received an initial diagnosis of this newborn disorder; Screening, Technology and Research in Genetics.
CPT1 Deficiency (Genetics Home Reference)
Excellent, detailed review of condition for patients and families; sponsored by the U.S. National Library of Medicine.
United Mitochondrial Disease Foundation
The United Mitochondrial Disease Foundation site provides parents and providers with information over 40 mitochondrial diseases; definitions of medical terms; professional articles; chapter links; newsletters; event information; and links to other sites.
Fatty Oxidation Disorders (FOD) Family Support Group
Information for families about fatty acid oxidation disorders, support groups, coping, finances, and links to other sites.
National Newborn Screening & Global Resource Center (NNSGRC)
Fact sheets, data reports, publications, and information for clinicians about genetic screening that includes links to state genetic contacts.
See all Newborn Screening Programs services providers (3) in our database.
See all Pediatric Genetics services providers (5) in our database.
For other services related to this condition, browse our Services categories or search our database.
|Content Last Updated:||6/2012|
Schulze A, Lindner M, Kohlmuller D, Olgemoller K, Mayatepek E, Hoffmann GF.
Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications.
Pediatrics. 2003;111(6 Pt 1):1399-406. PubMed abstract