Beta ketothiolase deficiency: A rare inherited disease characterized by the bodies inability to metabolise certain amino acids and products of the breakdown of fat. Harmful levels of organic acids build up in the body and cause ketoacidic attacks. More detailed information about the symptoms, causes, and treatments of Beta ketothiolase deficiency is available below.
See full list of 9 symptoms of Beta ketothiolase deficiency
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Read more about causes of Beta ketothiolase deficiency.
More information about causes of Beta ketothiolase deficiency:
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Beta ketothiolase deficiency is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Beta ketothiolase deficiency, or a subtype of Beta ketothiolase deficiency,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
Ophanet, a consortium of European partners,
currently defines a condition rare when it affects 1 person per 2,000.
They list Beta ketothiolase deficiency as a "rare disease".
Source - Orphanet
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