2-Methylacetoacetyl CoA Thiolase Deficiency
Common Name(s)
2-Methylacetoacetyl CoA Thiolase Deficiency
Advocacy and Support Organizations
Condition Specific Organizations
Following organizations serve the condition "2-Methylacetoacetyl CoA Thiolase Deficiency" for support, advocacy or research.
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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.
Recommended Apps
Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.
Finding the right clinical trial for 2-Methylacetoacetyl CoA Thiolase Deficiency can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.
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:
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, ...
Journal: J. Med. Genet.. 1984 Oct;21(5):397.
To view other free, full-text articles on human participants, please click on the link below.
Reviews from the PubMed Database
Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "2-Methylacetoacetyl CoA Thiolase Deficiency" returned 0 free, full-text review articles on human participants.
No free, full-text review articles on human participants are available at this time. Please click this link to visit the PubMed website for results on "2-Methylacetoacetyl CoA Thiolase Deficiency".
Symptoms, Diagnosis, and Treatment
https://ghr.nlm.nih.gov/gene/HADHB
https://ghr.nlm.nih.gov/condition/beta-ketothiolase-deficiency
https://ghr.nlm.nih.gov/gene/ACAT2
https://ghr.nlm.nih.gov/gene/SCP2
https://ghr.nlm.nih.gov/gene/HADHA
https://ghr.nlm.nih.gov/gene/ACADSB
https://ghr.nlm.nih.gov/condition/succinyl-coa3-ketoacid-coa-transferase-deficiency
https://ghr.nlm.nih.gov/gene/OGDH
https://ghr.nlm.nih.gov/condition/short-branched-chain-acyl-coa-dehydrogenase-deficiency
https://ghr.nlm.nih.gov/gene/MCCC2
https://ghr.nlm.nih.gov/condition/complement-component-2-deficiency
https://ghr.nlm.nih.gov/condition/3-hydroxyacyl-coa-dehydrogenase-deficiency
https://ghr.nlm.nih.gov/condition/malonyl-coa-decarboxylase-deficiency
https://ghr.nlm.nih.gov/condition/isobutyryl-coa-dehydrogenase-deficiency
https://ghr.nlm.nih.gov/condition/adenosine-deaminase-2-deficiency
https://ghr.nlm.nih.gov/condition/hsd10-disease
https://ghr.nlm.nih.gov/gene/PHYH
https://ghr.nlm.nih.gov/condition/succinate-coa-ligase-deficiency
https://ghr.nlm.nih.gov/gene/PANK2
There are currently no related results available in GeneReviews.
There are currently no related results available in Genetic Testing Registry.
Clinical Trial Information This information is provided by ClinicalTrials.gov
There are currently no open clinical trials for this condition.
Finding the right clinical trial for 2-Methylacetoacetyl CoA Thiolase Deficiency can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.