3-methylglutaconic aciduria

(redirected from 3-methyl glutaconic aciduria)

3-meth·yl·glu·ta·con·ic ac·i·du·ri·a

(meth'il-glū'tă-kon'ik as'i-dyū'rē-a),

Elevated levels of 3-methylglutaconic acid in the urine. An inherited disorder the mild form of which is a result of a deficiency of 3-methylglutaconyl-CoA hydratase, leading to delayed speech development.

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3-methylglutaconyl-CoA hydratase
Barth syndrome

References in periodicals archive ?

Metabolic disorders seen were mitochondrial cytopathy, one each case of phenylketonuria, congenital lactic acidosis, 3-hydroxy butyric aciduria, 3-methyl glutaconic aciduria, and glutaric aciduria.

Evaluation of children with global developmental delay: a prospective study at Sultan Qaboos University Hospital, Oman

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