Barth syndrome (MGCA2) [DS:H00654]

Gunay-Aygun M

3-Methylglutaconic aciduria: a common biochemical marker in various syndromes with diverse clinical features.

Mol Genet Metab 84:1-3 (2005)
DOI:10.1016/j.ymgme.2004.12.003

IJlst L, Loupatty FJ, Ruiter JP, Duran M, Lehnert W, Wanders RJ

3-Methylglutaconic aciduria type I is caused by mutations in AUH.

Am J Hum Genet 71:1463-6 (2002)
DOI:10.1086/344712

Bione S, D'Adamo P, Maestrini E, Gedeon AK, Bolhuis PA, Toniolo D

A novel X-linked gene, G4.5. is responsible for Barth syndrome.

Nat Genet 12:385-9 (1996)
DOI:10.1038/ng0496-385

Huizing M, Dorward H, Ly L, Klootwijk E, Kleta R, Skovby F, Pei W, Feldman B, Gahl WA, Anikster Y

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

Mol Genet Metab 100:149-54 (2010)
DOI:10.1016/j.ymgme.2010.03.005

Davey KM, Parboosingh JS, McLeod DR, Chan A, Casey R, Ferreira P, Snyder FF, Bridge PJ, Bernier FP

Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition.

J Med Genet 43:385-93 (2006)
DOI:10.1136/jmg.2005.036657

Sarig O, Goldsher D, Nousbeck J, Fuchs-Telem D, Cohen-Katsenelson K, Iancu TC, Manov I, Saada A, Sprecher E, Mandel H

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.

Am J Med Genet A 161A:2204-15 (2013)
DOI:10.1002/ajmg.a.36059

Wortmann SB, Zietkiewicz S, Guerrero-Castillo S, Feichtinger RG, Wagner M, Russell J, Ellaway C, Mroz D, Wyszkowski H, Weis D, Hannibal I, von Stulpnagel C, Cabrera-Orefice A, Lichter-Konecki U, Gaesser J, Windreich R, Myers KC, Lorsbach R, Dale RC, Gersting S, Prada CE, Christodoulou J, Wolf NI, Venselaar H, Mayr JA, Wevers RA

Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency.

Genet Med 23:1705-1714 (2021)
DOI:10.1038/s41436-021-01194-x

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

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.

Am J Hum Genet 96:245-57 (2015)
DOI:10.1016/j.ajhg.2014.12.013

Mandel H, Saita S, Edvardson S, Jalas C, Shaag A, Goldsher D, Vlodavsky E, Langer T, Elpeleg O

Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria.

J Med Genet 53:690-6 (2016)
DOI:10.1136/jmedgenet-2016-103922

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

Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations.

Clin Genet 91:690-696 (2017)
DOI:10.1111/cge.12855