3-Methylglutaconic aciduria

Common Name(s)

3-Methylglutaconic aciduria

Type I MGCA is a rare autosomal recessive disorder of leucine catabolism. The metabolic landmark is urinary excretion of 3-methylglutaconic acid (3-MGA) and its derivatives 3-methylglutaric acid (3-MG) and 3-hydroxyisovaleric acid (3-HIVA). Two main presentations have been described: 1 with onset in childhood associated with the nonspecific finding of psychomotor retardation, and the other with onset in adulthood of a progressive neurodegenerative disorder characterized by ataxia, spasticity, and sometimes dementia; these patients develop white matter lesions in the brain. However, some asymptomatic pediatric patients have been identified by newborn screening and show no developmental abnormalities when reexamined later in childhood (summary by {17:Wortmann et al., 2010}). Genetic Heterogeneity and Classification of Methylglutaconic Aciduria Methylglutaconic aciduria is a clinically and genetically heterogeneous disorder. Type II MGCA, also known as Barth syndrome (BTHS; {302060}), is caused by mutation in the tafazzin gene (TAZ; {300394}) on chromosome Xq28. It is characterized by mitochondrial cardiomyopathy, short stature, skeletal myopathy, and recurrent infections; cognitive development is normal. Type III MGCA ({258501}), caused by mutation in the OPA3 gene ({606580}) on chromosome 19q13.2-q13.3, occurs in Iraqi Jews and involves optic atrophy, movement disorder, and spastic paraplegia. In types II and III, the elevations of 3-methylglutaconate and 3-methylglutarate in urine are modest. Type IV MGCA ({250951}) represents an unclassified group of patients who have severe psychomotor retardation and cerebellar dysgenesis. Type V MGCA ({610198}), caused by mutation in the DNAJC19 gene ({608977}) on chromosome 3q26.33, is characterized by early-onset dilated cardiomyopathy with conduction defects, nonprogressive cerebellar ataxia, testicular dysgenesis, and growth failure in addition to 3-methylglutaconic aciduria ({1:Chitayat et al., 1992}; {2:Davey et al., 2006}). {4:Eriguchi et al. (2006)} noted that type I MGCA is very rare, with only 13 patients reported in the literature as of 2003.
 

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "3-Methylglutaconic aciduria" returned 8 free, full-text research articles on human participants. First 3 results:

OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria.
 

Author(s): Marjan Huizing, Heidi Dorward, Lien Ly, Enriko Klootwijk, Robert Kleta, Flemming Skovby, Wuhong Pei, Benjamin Feldman, William A Gahl, Yair Anikster

Journal: Mol. Genet. Metab.. 2010 Jun;100(2):149-54.

 

3-Methylglutaconic aciduria type III (3-MGCA type III), caused by recessive mutations in the 2-exon gene OPA3, is characterized by early-onset bilateral optic atrophy, later-onset extrapyramidal dysfunction, and increased urinary excretion of 3-methylglutaconic acid and 3-methylglutaric ...

Last Updated: 17 May 2010

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Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy.
 

Author(s): Saskia B Wortmann, Richard J T Rodenburg, An Jonckheere, Maaike C de Vries, Marjan Huizing, Katrin Heldt, Lambert P van den Heuvel, Udo Wendel, Leo A Kluijtmans, Udo F Engelke, Ron A Wevers, Jan A M Smeitink, Eva Morava

Journal: Brain. 2009 Jan;132(Pt 1):136-46.

 

The heterogeneous group of 3-methylglutaconic aciduria type IV consists of patients with various organ involvement and mostly progressive neurological impairment in combination with 3-methylglutaconic aciduria and biochemical features of dysfunctional oxidative phosphorylation. Here ...

Last Updated: 26 Jan 2009

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Direct nonisotopic assay of 3-methylglutaconyl-CoA hydratase in cultured human skin fibroblasts to specifically identify patients with 3-methylglutaconic aciduria type I.
 

Author(s): Ference J Loupatty, Jos P N Ruiter, Lodewijk IJlst, Marinus Duran, Ronald J A Wanders

Journal: Clin. Chem.. 2004 Aug;50(8):1447-50.

 

Last Updated: 27 Jul 2004

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