3-methylglutaconic aciduria

(redirected from Costeff syndrome)

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 ?
Another protein with predominantly mitochondrial localization, OPA3, is involved in two allelic disorders: a dominantly inherited optic atrophy associated with early-onset cataracts and an autosomal recessive progressive neurodegenerative disease with 3-methylglutaconic aciduria, named Costeff syndrome [27, 28].
Type III 3-methylglutaconic aciduria (OMIM 25801, also known as Costeff syndrome) is a rare neuroophthalmological syndrome characterized by increased urinary excretion of 3-methylglutaconic acid and 3-methylglutaric acid, early-onset bilateral optic atrophy, pallor of the optic disk, and reduced visual acuity, which are associated with spasticity, extrapyramidal signs, and cognitive deficits in later stages of the disease.
Three additional forms of 3MGA have been recognized--type II (Barth syndrome, McKusick 302060); type III (Costeff syndrome, McKusick 258501); and type IV ("unspecified", McKusick 250951)--all characterized by normal hydratase activities (3).