Carnitine-Acylcarnitine Translocase Deficiency

Common Name(s)

Carnitine-Acylcarnitine Translocase Deficiency

Carnitine acylcarnitine translocase deficiency (CACT) is a rare genetic condition. CACT results from a mutation (error) in the SLC25A20 gene. People with CACT cannot use fats for energy. Fats are broken down by enzymes (special proteins) into fatty acids. Fatty acids must be taken into the mitochondria of the cell to make energy. CACT occurs when the body does not make enough carnitine acylcarnitine translocase (CACT). CACT is needed to take the fatty acids into the mitochondria. Fatty acids are the main energy for the heart and muscles and are an important during fasting (like sleeping) for the liver and other tissues. In addition, fatty acids will build up in the body and become toxic, damaging to the heart, liver and muscles.

There have only been 30 reported cases of CACT. Most infants with CACT do not survive. A milder form may not develop until early childhood. The symptoms of CACT include behavioral changes, sleeping longer than usual, fever, poor appetite, diarrhea, vomiting, low blood sugar, trouble breathing, and weak muscle tone (hypotonia). Even with treatment, there is a risk of liver failure, nervous system damage, coma and sudden death. Treatment includes a special diet. The supplement medium chain triglyceride (MCT) oil may be recommended as well. The MCT oil contains fats that can be broken down by individuals with CACT to produce energy.

CACT is autosomal recessive. Early diagnosis and treatment are necessary for survival. Many babies are screened at birth so that treatment may begin early, but the conditions included in newborn screening vary state by state. For more information, visit Baby’s First Test. Talk with your doctor about the most current treatments. Support groups are a good source of information. A genetic counselor will help you understand the genetics.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Carnitine-Acylcarnitine Translocase Deficiency" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Carnitine-Acylcarnitine Translocase Deficiency" returned 3 free, full-text research articles on human participants. First 3 results:

Carnitine-acylcarnitine translocase deficiency in three neonates presenting with rapid deterioration and cardiac arrest.
 

Author(s): Robert S Y Lee, C W Lam, C K Lai, Y P Yuen, K Y Chan, C C Shek, Albert Y W Chan, C B Chow

Journal: Hong Kong Med J. 2007 Feb;13(1):66-8.

 

We report on three Chinese neonates with carnitine-acylcarnitine translocase deficiency. They presented within the first 48 hours of life. Two neonates were found in cardiac arrest; one of them survived after resuscitation. The third neonate suddenly developed cardiorespiratory insufficiency ...

Last Updated: 5 Feb 2007

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Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts.
 

Author(s): S V Pande, M Brivet, A Slama, F Demaugre, C Aufrant, J M Saudubray

Journal: J. Clin. Invest.. 1993 Mar;91(3):1247-52.

 

Deficiency of the enzymes of mitochondrial fatty acid oxidation and related carnitine dependent steps have been shown to be one of the causes of the fasting-induced hypoketotic hypoglycemia. We describe here carnitine-acylcarnitine translocase deficiency in a neonate who died eight ...

Last Updated: 13 Apr 1993

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Brief report: a deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane.
 

Author(s): C A Stanley, D E Hale, G T Berry, S Deleeuw, J Boxer, J P Bonnefont

Journal: N. Engl. J. Med.. 1992 Jul;327(1):19-23.

 

Last Updated: 8 Jul 1992

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Carnitine-Acylcarnitine Translocase Deficiency" returned 0 free, full-text review articles on human participants.

 
 
 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.