Carnitine-Acylcarnitine Translocase Deficiency

Common Name(s)

Carnitine-Acylcarnitine Translocase Deficiency

Carnitine-acylcarnitine translocase deficiency is a condition that prevents the body from converting certain fats called long-chain fatty acids into energy, particularly during periods without food (fasting). Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce energy. People with this disorder have a faulty transporter that disrupts carnitine's role in processing long-chain fatty acids. Carnitine-acylcarnitine translocase deficiency is a type of fatty acid oxidation disorder. There are two forms of carnitine-acylcarnitine translocase deficiency. The most common type happens in newborns. A milder, less common type happens in older infants and children.
 

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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.