3-Methylglutaconic Aciduria Type III


3-Methylglutaconic aciduria type 3 (Costeff syndrome; Optic atrophy plus syndrome) is an autosomal recessive disease caused by a deficiency in the OPA3 code which does for optic atrophy 3 protein. A deficiency of this enzyme results in accumulation of 3-methylglutaconic acid and methylglutaric acid. Symptoms include ataxia, dysarthria, optic atrophy, and neurological deterioration.

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References

  1. Uniprot: Q9H6K4
  2. OMIM: Entry 258501
  3. Wikipedia: 3-Methylglutaconic aciduria type 3
  4. Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy (pp 72) (2nd ed). Heilbronn: SPS Verlagsgesellschaft
  5. Costeff H, Gadoth N, Apter N, Prialnic M, Savir H: A familial syndrome of infantile optic atrophy, movement disorder, and spastic paraplegia. Neurology. 1989 Apr;39(4):595-7. Pubmed
  6. Anikster Y, Kleta R, Shaag A, Gahl WA, Elpeleg O: Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews. Am J Hum Genet. 2001 Dec;69(6):1218-24. Epub 2001 Oct 19. Pubmed
  7. Chitayat D, Chemke J, Gibson KM, Mamer OA, Kronick JB, McGill JJ, Rosenblatt B, Sweetman L, Scriver CR: 3-Methylglutaconic aciduria: a marker for as yet unspecified disorders and the relevance of prenatal diagnosis in a ‘new’ type (‘type 4’). J Inherit Metab Dis. 1992;15(2):204-12. Pubmed