2-Methylacetoacetyl CoA Thiolase Deficiency

Common Name(s)

2-Methylacetoacetyl CoA Thiolase Deficiency

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "2-Methylacetoacetyl CoA Thiolase 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 "2-Methylacetoacetyl CoA Thiolase Deficiency" returned 2 free, full-text research articles on human participants. First 3 results:

Biochemical profiling in two siblings with mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency.
 

Author(s): Lock Hock Ngu, Md Yunus Zabedah, Balasubramaniam Shanti, Siao Hean Teh

Journal: Malays J Pathol. 2008 Dec;30(2):109-14.

 

We report the biochemical profiling in two siblings with mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency. Organic aciduria typical of this rare inborn error metabolism was found when the elder sibling presented with an episode of severe ketoacidosis at 20 months of age, ...

Last Updated: 31 Dec 1969

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A case of 2-methylacetoacetyl CoA thiolase deficiency with coincidental chromosome abnormalities.
 

Author(s): R G Gray, G W Lowther, J M Littlewood, B Middleton, M J Bennett

Journal: J. Med. Genet.. 1984 Oct;21(5):397.

 

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

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The terms "2-Methylacetoacetyl CoA Thiolase 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.