Acidemia, isovaleric: A rare genetic condition where the body can't process proteins adequately. More specifically, there are insufficient levels of the enzyme needed to break down an amino acid called leucine. This results in a build up of isovaleric acid which can harm the brain and nervous system. Some people suffer severe symptoms from birth and others suffer milder symptoms that come and go and are affected by such things as infections or consumption of high protein food. More detailed information about the symptoms, causes, and treatments of Acidemia, isovaleric is available below.
See full list of 7 symptoms of Acidemia, isovaleric
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Acidemia, isovaleric is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Acidemia, isovaleric, or a subtype of Acidemia, isovaleric,
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 Acidemia, isovaleric as a "rare disease".
Source - Orphanet
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