Carnitine acylcarnitine translocase (CACT or CAT) deficiency
Carnitine acylcarnitine carrier (CAC) deficiency
Solute carrier family 25 member 20 (SLCA25A20) deficiency
Initial symptoms/signs may include:
- poor feeding
- cardiac insufficiency and/or arrhythmia
- lab findings:
- metabolic acidosis
- hypoketotic hypoglycemia
- elevated CK and liver enzymes
- Contact the family and evaluate the infant for poor feeding, vomiting, lethargy, hepatomegaly, cardiac insufficiency or arrhythmia (bradycardia, cardiac arrest);
- 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 for urgent care when the infant becomes ill (see CACT Deficiency - Information for Parents (STAR-G) for additional information);
- Support initiation and maintenance of dietary restriction of long chain fatty acids, high carbohydrate/low-fat diet, avoidance of fasting;
- Carnitine supplements, medium chain triglyceride (MCT) oil supplements, and cornstarch may be indicated;
- For those identified after irreversible consequences, assist in management, particularly with developmental and educational interventions.
CACT Deficiency - Informaion for Professionals (STAR-G)
Structured list of information about the condition and links to more information; Screening, Technology, and Research in Genetics.
Resources for CACT Deficiency (Disease InfoSearch)
Compilation of information, articles, research, case studies, and genetics links; from Genetic Alliance.
CACT Deficiency (OMIM)
Extensive review of literature that provides technical information on genetic disorders; Online Mendelian Inheritance in Man site, hosted by Johns Hopkins University.
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.
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.
CACT 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.
CACT Deficiency (Genetics Home Reference)
Excellent, detailed review of condition for patients and families; U.S. National Library of Medicine.
Fatty Oxidation Disorders (FOD) Family Support Group
Information for families about fatty acid oxidation disorders, support groups, coping, finances, and links to other sites.
ACT Sheet for Elevated C16 and/or C18:1 Acylcarnitine (ACMG) ( 345 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.
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.
|Compiled and edited by:||Alfred Romeo, RN, PhD - 3/2007|
|Content Last Updated:||6/2012|
Iacobazzi V, Pasquali M, Singh R, Matern D, Rinaldo P, Amat di San Filippo C, Palmieri F, Longo N.
Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation.
Am J Med Genet A. 2004;126(2):150-5. PubMed abstract
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