H00754 | |
H number | H00754 |
Name | 3-Methylglutaconic aciduria |
Description | 3-Methylglutaconic aciduria (MGCA) is a group of metabolic disorders characterized by increased urinary excretion of 3-methylglutaconic acid and 3-methylglutaric acid. Nine distinct forms of MGCA have been recognized. |
Category | Inherited metabolic disorder |
Network | nt06024(H00754) Valine, leucine and isoleucine degradation |
Gene | (MGCA1) AUH [HSA:549] [KO:K05607] (MGCA2) TAFAZZIN [HSA:6901] [KO:K13511] (MGCA3) OPA3 [HSA:80207] [KO:K23166] (MGCA5) DNAJC19 [HSA:131118] [KO:K09539] (MGCA6) SERAC1 [HSA:84947] [KO:K23504] (MGCA7) CLPB [HSA:81570] [KO:K03695] (MGCA8) HTRA2 [HSA:27429] [KO:K08669] (MGCA9) TIMM50 [HSA:92609] [KO:K17496] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 5C50.E0 ICD-10: E71.1 MeSH: C579867 OMIM: 250950 302060 258501 610198 614739 616271 617248 617698 |
Reference | PMID:15719488 AUTHORS Gunay-Aygun M TITLE 3-Methylglutaconic aciduria: a common biochemical marker in various syndromes with diverse clinical features. JOURNAL Mol Genet Metab 84:1-3 (2005) DOI:10.1016/j.ymgme.2004.12.003 PMID:12434311 (AUH) AUTHORS IJlst L, Loupatty FJ, Ruiter JP, Duran M, Lehnert W, Wanders RJ TITLE 3-Methylglutaconic aciduria type I is caused by mutations in AUH. JOURNAL Am J Hum Genet 71:1463-6 (2002) DOI:10.1086/344712 PMID:20350831 (OPA3) AUTHORS Huizing M, Dorward H, Ly L, Klootwijk E, Kleta R, Skovby F, Pei W, Feldman B, Gahl WA, Anikster Y TITLE OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria. JOURNAL Mol Genet Metab 100:149-54 (2010) DOI:10.1016/j.ymgme.2010.03.005 PMID:16055927 (DNAJC19) AUTHORS Davey KM, Parboosingh JS, McLeod DR, Chan A, Casey R, Ferreira P, Snyder FF, Bridge PJ, Bernier FP TITLE Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition. JOURNAL J Med Genet 43:385-93 (2006) DOI:10.1136/jmg.2005.036657 PMID:23918762 (SERAC1) AUTHORS Sarig O, Goldsher D, Nousbeck J, Fuchs-Telem D, Cohen-Katsenelson K, Iancu TC, Manov I, Saada A, Sprecher E, Mandel H TITLE Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations in SERAC1. JOURNAL Am J Med Genet A 161A:2204-15 (2013) DOI:10.1002/ajmg.a.36059 PMID:25597510 (CLPB) AUTHORS Wortmann SB, Zietkiewicz S, Kousi M, Szklarczyk R, Haack TB, Gersting SW, Muntau AC, Rakovic A, Renkema GH, Rodenburg RJ, Strom TM, Meitinger T, Rubio-Gozalbo ME, Chrusciel E, Distelmaier F, Golzio C, Jansen JH, van Karnebeek C, Lillquist Y, Lucke T, Ounap K, Zordania R, Yaplito-Lee J, van Bokhoven H, Spelbrink JN, Vaz FM, Pras-Raves M, Ploski R, Pronicka E, Klein C, Willemsen MA, de Brouwer AP, Prokisch H, Katsanis N, Wevers RA TITLE CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. JOURNAL Am J Hum Genet 96:245-57 (2015) DOI:10.1016/j.ajhg.2014.12.013 PMID:27208207 (HTRA2) AUTHORS Mandel H, Saita S, Edvardson S, Jalas C, Shaag A, Goldsher D, Vlodavsky E, Langer T, Elpeleg O TITLE Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria. JOURNAL J Med Genet 53:690-6 (2016) DOI:10.1136/jmedgenet-2016-103922 PMID:27573165 (TIMM50) AUTHORS Shahrour MA, Staretz-Chacham O, Dayan D, Stephen J, Weech A, Damseh N, Pri Chen H, Edvardson S, Mazaheri S, Saada A, Hershkovitz E, Shaag A, Huizing M, Abu-Libdeh B, Gahl WA, Azem A, Anikster Y, Vilboux T, Elpeleg O, Malicdan MC TITLE Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations. JOURNAL Clin Genet 91:690-696 (2017) DOI:10.1111/cge.12855 |