Carnitine acylcarnitine translocase deficiency

Common Name(s)

Carnitine acylcarnitine translocase deficiency

Carnitine-acylcarnitine translocase deficiency is a rare autosomal recessive metabolic disorder of long-chain fatty acid oxidation. Metabolic consequences include hypoketotic hypoglycemia under fasting conditions, hyperammonemia, elevated creatine kinase and transaminases, dicarboxylic aciduria, very low free carnitine and abnormal acylcarnitine profile with marked elevation of the long-chain acylcarnitines. Clinical features include neurologic abnormalities, cardiomyopathy and arrhythmias, skeletal muscle damage, and liver dysfunction. Most patients become symptomatic in the neonatal period with a rapidly progressive deterioration and a high mortality rate. However, presentations at a later age with a milder phenotype have been reported (summary by {16:Rubio-Gozalbo et al., 2004}).
 

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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.

 

 

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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

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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

Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Extension Study for Subjects Previously Enrolled in Triheptanoin Studies.
 

Status: Not yet recruiting

Condition Summary: Carnitine Palmitoyltransferase (CPT I or CPT II) Deficiency; Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency; Long-chain 3-hydroxy-acyl-CoA Dehydrogenase (LCHAD) Deficiency; Trifunctional Protein (TFP) Deficiency; Carnitine-acylcarnitine Translocase (CACT) Deficiency

 

Last Updated: 7 Aug 2014

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