3-methylglutaconic aciduria

(redirected from 3-Methylglutaconyl-CoA Hydratase Deficiency)
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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.
References in periodicals archive ?
C50H is increased in 3-methylcrotonyl-CoA carboxylase deficiency, 3-hydroxy-3-methylglutaryl-CoA lyase deficiency, and 3-methylglutaconyl-CoA hydratase deficiency, whereas 2-methyl-3-hydroxybutyrylcarnitine is increased in [beta]-ketothiolase deficiency and 2-methyl-3-hydroxybutyrl-CoA dehydrogenase deficiency (118).

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