Beta Ketothiolase Deficiency

Common Name(s)

Beta Ketothiolase Deficiency, HSD10 deficiency, 2-Methyl-3-Hydroxybutyric Aciduria, 3-Ketothiolase Deficiency

2-methyl-3-hydroxybutyric aciduria is an inherited disorder in which the body cannot effectively process the amino acid isoleucine. Signs and symptoms of this condition usually develop in infancy or early childhood and include metabolic acidosis, hypoglycemia, hypotonia, seizures, movement problems, retinal degeneration, and hearing loss. Affected males have severe neurodegeneration with loss of developmental milestones, whereas females have mild to moderate developmental delay. 2-methyl-3-hydroxybutyric aciduria is caused by mutations in the HSD17B10 gene; it has an X-linked dominant pattern of inheritance.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Beta Ketothiolase 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 "Beta Ketothiolase Deficiency" returned 1 free, full-text research articles on human participants. First 3 results:

Induction of fetal hemoglobin in the presence of increased 3-hydroxybutyric acid associated with beta-ketothiolase deficiency.
 

Author(s): R Galanello, A Cao, N Olivieri

Journal: N. Engl. J. Med.. 1994 Sep;331(11):746-7.

 

Last Updated: 15 Sep 1994

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Reviews from the PubMed Database

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The terms "Beta Ketothiolase Deficiency" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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