KEGG   DISEASE: 3-Methylglutaconic aciduriaHelp
Entry
H00754                      Disease                                

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 disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of amino acid metabolism
   H00754  3-Methylglutaconic aciduria
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C50  Inborn errors of amino acid or other organic acid metabolism
     H00754  3-Methylglutaconic aciduria
BRITE hierarchy
Pathway
hsa00280  Valine, leucine and isoleucine degradation
Network
nt06024  Valine, leucine and isoleucine degradation
  Element
N00834  AUH deficiency in leucine degradation
Gene
(MGCA1) AUH [HSA:549] [KO:K05607]
(MGCA2) TAZ [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]
Comment
Barth syndrome (MGCA type 2) is described in H00654.
Other DBs
ICD-11: 5C50.E0
ICD-10: E71.1
MeSH: C579867
OMIM: 250950 302060 258501 610198 614739 616271 617248 617698
Reference
  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
Reference
  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
Reference
  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
Reference
  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
Reference
  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
Reference
  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
Reference
  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
Reference
  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

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