Glutaric Aciduria Type I


Glutaric Aciduria Type 1 is a rare autosomal recessive disease caused by a mutation in the GCDH which codes for glutaryl-CoA dehydrogenase. A deficiency in this enzyme results in accumulation of 3-hydroxybutyric acid, 3-hydroxyglutaric acid, glutaconic acid, glutaric acid, and ketone bodies in urine. Symptoms include encephalopathy, grimacing, dystonia, metabolic acidosis, and hygroma. Treatment includes a low-protein diet, L-carnitine, riboflavin, and anticonvulsants.

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References

  1. Wikipedia: Glutaric aciduria type 1
  2. Uniprot: Q92947
  3. OMIM: Entry 231670
  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 47) (2nd ed). Heilbronn: SPS Verlagsgesellschaft
  5. Amir N, el-Peleg O, Shalev RS, Christensen E: Glutaric aciduria type I: clinical heterogeneity and neuroradiologic features. Neurology. 1987 Oct;37(10):1654-7. Pubmed
  6. Biery BJ, Stein DE, Morton DH, Goodman SI: Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish. Am J Hum Genet. 1996 Nov;59(5):1006-11. Pubmed
  7. Hedlund GL, Longo N, Pasquali M: Glutaric acidemia type 1. Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):86-94. Pubmed
  8. Zschocke J, Quak E, Guldberg P, Hoffmann GF: Mutation analysis in glutaric aciduria type I. J Med Genet. 2000 Mar;37(3):177-81. Pubmed
  9. Uniprot: Q9HAC7
  10. 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 49) (2nd ed). Heilbronn: SPS Verlagsgesellschaft
  11. Knerr I, Zschocke J, Trautmann U, Dorland L, de Koning TJ, Muller P, Christensen E, Trefz FK, Wundisch GF, Rascher W, Hoffmann GF: Glutaric aciduria type III: a distinctive non-disease? J Inherit Metab Dis. 2002 Oct;25(6):483-90. Pubmed
  12. Sherman EA, Strauss KA, Tortorelli S, Bennett MJ, Knerr I, Morton DH, Puffenberger EG: Genetic mapping of glutaric aciduria, type 3, to chromosome 7 and identification of mutations in c7orf10. Am J Hum Genet. 2008 Nov;83(5):604-9. Pubmed