2-Methylbutyric Aciduria: A very rare genetic disorder where an enzyme deficiency prevents the break down of certain proteins into energy and results in a harmful accumulation of acids in the blood and body tissues. More specifically, there is a deficiency of an enzyme (2-methylbutyryl-coenzyme A dehydrogenase) needed to convert the amino acid isoleucine into energy. 2-methylbutyrylglycine levels build up in the body and may cause damage. Symptoms vary according to the degree of enzyme deficiency - can range from asymptomatic to life-threatening. More detailed information about the symptoms, causes, and treatments of 2-Methylbutyric Aciduria is available below.
See full list of 14 symptoms of 2-Methylbutyric Aciduria
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