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Yang, C. 3-methylglutaconyl-CoA Hydratase Deficiency. Encyclopedia. Available online: https://encyclopedia.pub/entry/4155 (accessed on 28 September 2026).
Yang C. 3-methylglutaconyl-CoA Hydratase Deficiency. Encyclopedia. Available at: https://encyclopedia.pub/entry/4155. Accessed September 28, 2026.
Yang, Catherine. "3-methylglutaconyl-CoA Hydratase Deficiency" Encyclopedia, https://encyclopedia.pub/entry/4155 (accessed September 28, 2026).
Yang, C. (2020, December 23). 3-methylglutaconyl-CoA Hydratase Deficiency. In Encyclopedia. https://encyclopedia.pub/entry/4155
Yang, Catherine. "3-methylglutaconyl-CoA Hydratase Deficiency." Encyclopedia. Web. 23 December, 2020.
3-methylglutaconyl-CoA Hydratase Deficiency
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/3-methylglutaconyl-coa-hydratase-deficiency

3-methylglutaconyl-CoA hydratase deficiency is an inherited condition that causes neurological problems. Beginning in infancy to early childhood, children with this condition often have delayed development of mental and motor skills (psychomotor delay), speech delay, involuntary muscle cramping (dystonia), and spasms and weakness of the arms and legs (spastic quadriparesis). Affected individuals can also have optic atrophy, which is the degeneration (atrophy) of nerve cells that carry visual information from the eyes to the brain.

genetic conditions

References

  1. Eriguchi M, Mizuta H, Kurohara K, Kosugi M, Yakushiji Y, Okada R, Yukitake M, Hasegawa Y, Yamaguchi S, Kuroda Y. 3-Methylglutaconic aciduria type I causesleukoencephalopathy of adult onset. Neurology. 2006 Nov 28;67(10):1895-6.
  2. 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.2002 Dec;71(6):1463-6.Sep;73(3):709.
  3. Mercimek-Mahmutoglu S, Tucker T, Casey B. Phenotypic heterogeneity in twosiblings with 3-methylglutaconic aciduria type I caused by a novel intragenicdeletion. Mol Genet Metab. 2011 Nov;104(3):410-3. doi:10.1016/j.ymgme.2011.07.021.
  4. Wortmann SB, Duran M, Anikster Y, Barth PG, Sperl W, Zschocke J, Morava E,Wevers RA. Inborn errors of metabolism with 3-methylglutaconic aciduria asdiscriminative feature: proper classification and nomenclature. J Inherit MetabDis. 2013 Nov;36(6):923-8. doi: 10.1007/s10545-012-9580-0.Review.
  5. Wortmann SB, Kluijtmans LA, Engelke UF, Wevers RA, Morava E. The3-methylglutaconic acidurias: what's new? J Inherit Metab Dis. 2012Jan;35(1):13-22. doi: 10.1007/s10545-010-9210-7.
  6. Wortmann SB, Kluijtmans LA, Rodenburg RJ, Sass JO, Nouws J, van Kaauwen EP,Kleefstra T, Tranebjaerg L, de Vries MC, Isohanni P, Walter K, Alkuraya FS, SmutsI, Reinecke CJ, van der Westhuizen FH, Thorburn D, Smeitink JA, Morava E, Wevers RA. 3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients. JInherit Metab Dis. 2013 Nov;36(6):913-21. doi: 10.1007/s10545-012-9579-6.
  7. Wortmann SB, Kremer BH, Graham A, Willemsen MA, Loupatty FJ, Hogg SL, Engelke UF, Kluijtmans LA, Wanders RJ, Illsinger S, Wilcken B, Cruysberg JR, Das AM,Morava E, Wevers RA. 3-Methylglutaconic aciduria type I redefined: a syndromewith late-onset leukoencephalopathy. Neurology. 2010 Sep 21;75(12):1079-83. doi: 10.1212/WNL.0b013e3181f39a8a.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Catherine Yang
View Times: 760
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 23 Dec 2020
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