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Screening & Prevention >> Newborn Screening >> Fatty Acid Oxidation Disorders >> CPT1 deficiency

CPT1 deficiency

Disorder Category

a fatty acid oxidation disorder

Screening

Finding

elevated C0/C16+C18

Tested By

tandem mass spectrometry (MS/MS); sensitivity=100%; specificity=N/A% [Schulze: 2003]

Names

CPT1 deficiency

Carnitine palmitoyl transferase deficiency, type 1A (CPT 1)

Carnitine palmitoyl transferase 1 deficiency

CPT1A

CPT 1 liver

ICD-9

277.85, Disorders of fatty acid oxidation

Overview

Carnitine palmitoyl transferase 1A (CPT1) is a mitochondrial enzyme involved in trans-membrane transport of fatty acids. Deficiency of CPT1 results in impaired energy production, usually manifest during periods of prolonged fasting and/or increased energy demands (fever, stress), resulting in rapid onset of hypoglycemic crises.

Prevalence

CPT 1 is rare [Schulze: 2003], with fewer than 40 known cases. [CPT1 deficiency review, GeneTests.org]

Inheritance

Autosomal recessive

Prenatal Testing

DNA testing, enzyme testing, and protein analysis by amniocentesis or CVS.

Clinical Characteristics

With treatment, episodes of hypoglycemia, and their consequent neurologic injury, may be avoided. Without treatment, injury from hypoglycemic episodes may lead to developmental delay, seizures, coma, and death. An adult-onset presentation with myopathy has been reported in one individual. Acute fatty liver of pregnancy may occur in a heterozygous mother of a homozygous fetus.

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,
  • vomiting,
  • lethargy,
  • lab findings:
    • hyperammonemia,
    • metabolic acidosis, and
    • hypoglycemia.

Follow-up on positive screening test

Quantitative plasma acylcarnitine profile, CPT1 enzyme analysis, CPT1A gene sequencing.

Primary care management

Upon notification of the + screen

If the diagnosis is confirmed

  • 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 info 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.

Specialty Care Management

Initial consultation and ongoing collaboration if the child is affected. A dietician may work with the family to devise an optimal approach to dietary management.

Resources

Links

For Professionals

CPT1 deficiency info for professionals, STAR-G
On the Screening, Technology and Research in Genetics (STAR-G) site, one of a series of Disorder Fact Sheets for Professionals; structured list of information about the condition, with links to more information.

ACT Sheet for CPT1 deficiency from ACMG (pdf 61kb)
Developed by the American College of Medical Genetics (ACMG), includes recommended responses to positive newborn screening test results, diagnostic evaluation, clinical expectations, and sources of additional information. See the ACMG ACT Sheets and Confirmatory Algorithms (link elsewhere on this page) for more info and sheets on other conditions.

ACMG ACT Sheets and Confirmatory Algorithms
The American College of Medical Genetics (ACMG) has developed ACTion (ACT) Sheets and algorithms for responding to positive newborn screening test results. This page contains a table with links to all of the ACT Sheets and related algorithms.

CPT1 deficiency review, GeneTests.org
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.

For Parents

CPT1 deficiency info for parents, STAR-G
From the Screening, Technology and Research in Genetics (STAR-G) site, providing information for parents about CPT1 deficiency and links to other sites including parent support groups.

CPT1 deficiency, Genetics Home Reference
Excellent, detailed review aimed at patients and families from the National Library of Medicine's Genetics Home Reference site.

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
The FODsupport.org site offers a variety of information for families about fatty acid oxidation disorders, support groups, coping, finances, and links to other sites.

Services

Newborn Screening Programs

Utah Newborn Screening Program, more info...
44 Mario Capecchi Drive
Salt Lake City, UT84114
Phone: 801-584-8256
Fax: 801-536-0966
http://health.utah.gov/newbornscreening

Pediatric Genetics

Metabolic Clinic, more info...
100 Mario Capecchi Drive
Salt Lake City, UT84113
Phone: 801-585-2457
Fax: 585-7252
http://www.ped.med.utah.edu/divisions/divisions.htm

See all Pediatric Genetics services providers (3) in our database.

For other services related to this condition, browse our Services categories or search our database.

Helpful Articles

PubMed search for articles on CPT1 deficiency in the last 5 years.

Authors

Reviewing Author: Nicola Longo MD, PhD, 3/2007
Compiled and edited by: Alfred Romeo RN, PhD, 3/2007
Content Last Updated: 3/2008

Page Bibliography

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
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