3-Methylglutaconic Aciduria Type IV


3-Methylglutaconic Aciduria Type IV (MGA, Type IV; MGA4) is an autosomal recessive disease caused by a mutation in an unknown gene. This disease results in an accumulation of cis and trans 3-methylglutaconic acid. Symptoms include, anemia, hyperammonemia, mental retardation, optic atrophy, hypotonia and early death.

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References

  1. Wikipedia: 3-Methylglutaconic aciduria type 4
  2. OMIM: Entry 250951
  3. 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
  4. 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