Skip to main content

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 89.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  1. Pusti S, et al. A treatable neurometabolic disorder: glutaric aciduria type 1. Case Rep Pediatr. 2014;2014:256356.

    CAS  PubMed Central  PubMed  Google Scholar 

  2. Hedlund GL, Longo N, Pasquali M. Glutaric acidemia type 1. Am J Med Genet C Semin Med Genet. 2006;142C(2):86–94.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  3. Greenberg CR, et al. Outcome of the first 3-years of a DNA-based neonatal screening program for glutaric acidemia type 1 in Manitoba and northwestern Ontario. Can Mol Genet Metab. 2002;75(1):70–8.

    Article  CAS  Google Scholar 

  4. Strauss KA, et al. Type I glutaric aciduria, part 1: natural history of 77 patients. Am J Med Genet C Semin Med Genet. 2003;121C(1):38–52.

    Article  PubMed  Google Scholar 

  5. Naughten ER, et al. Glutaric aciduria type I: outcome in the Republic of Ireland. J Inherit Metab Dis. 2004;27(6):917–20.

    Article  CAS  PubMed  Google Scholar 

  6. van der Watt G, et al. Glutaric aciduria type 1 in South Africa-high incidence of glutaryl-CoA dehydrogenase deficiency in black South Africans. Mol Genet Metab. 2010;101(2–3):178–82.

    Article  PubMed  Google Scholar 

  7. Goodman SI, et al. Glutaric aciduria; a “new” disorder of amino acid metabolism. Biochem Med. 1975;12(1):12–21.

    Article  CAS  PubMed  Google Scholar 

  8. Kölker S, et al. Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency. Pediatr Res. 2006;59(6):840–7.

    Article  PubMed  Google Scholar 

  9. Bjugstad KB, Goodman SI, Freed CR. Age at symptom onset predicts severity of motor impairment and clinical outcome of glutaric acidemia type 1. J Pediatr. 2000;137(5):681–6.

    Article  CAS  PubMed  Google Scholar 

  10. Kölker S, et al. Diagnosis and management of glutaric aciduria type I–revised recommendations. J Inherit Metab Dis. 2011;34(3):677–94.

    Article  PubMed Central  PubMed  Google Scholar 

  11. Kyllerman M, et al. Long-term follow-up, neurological outcome and survival rate in 28 Nordic patients with glutaric aciduria type 1. Eur J Paediatr Neurol. 2004;8(3):121–9.

    Article  PubMed  Google Scholar 

  12. Cerisola A, et al. Seizures versus dystonia in encephalopathic crisis of glutaric aciduria type I. Pediatr Neurol. 2009;40(6):426–31.

    Article  PubMed  Google Scholar 

  13. Gitiaux C, et al. Spectrum of movement disorders associated with glutaric aciduria type 1: a study of 16 patients. Mov Disord. 2008;23(16):2392–7.

    Article  PubMed  Google Scholar 

  14. Harting I, et al. Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I. Brain. 2009;132(Pt 7):1764–82.

    Article  PubMed  Google Scholar 

  15. Goodman SI, et al. Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli. Hum Mol Genet. 1995;4(9):1493–8.

    Article  CAS  PubMed  Google Scholar 

  16. Strauss KA, et al. Safety, efficacy and physiological actions of a lysine-free, arginine-rich formula to treat glutaryl-CoA dehydrogenase deficiency: focus on cerebral amino acid influx. Mol Genet Metab. 2011;104(1–2):93–106.

    Article  CAS  PubMed  Google Scholar 

  17. Kölker S, et al. Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I – A decade of experience. Mol Genet Metab. 2012;107(1–2):72–80.

    Article  PubMed  Google Scholar 

  18. Lindner M, et al. Neonatal screening for glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis. 2004;27(6):851–9.

    Article  CAS  PubMed  Google Scholar 

  19. Smith WE, et al. Glutaric acidemia, type I, missed by newborn screening in an infant with dystonia following promethazine administration. Pediatrics. 2001;107(5):1184–7.

    Article  CAS  PubMed  Google Scholar 

  20. Gallagher RC, et al. Glutaryl-CoA dehydrogenase deficiency and newborn screening: retrospective analysis of a low excretor provides further evidence that some cases may be missed. Mol Genet Metab. 2005;86(3):417–20.

    Article  CAS  PubMed  Google Scholar 

  21. Hennermann JB, et al. False-positive newborn screening mimicking glutaric aciduria type I in infants with renal insufficiency. J Inherit Metab Dis. 2009;32 Suppl 1:S355–9.

    Article  PubMed  Google Scholar 

  22. Moore T, Le A, Cowan TM. An improved LC-MS/MS method for the detection of classic and low excretor glutaric acidemia type 1. J Inherit Metab Dis. 2012;35(3):431–5.

    Article  CAS  PubMed  Google Scholar 

  23. Christensen E, et al. Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis. 2004;27(6):861–8.

    Article  CAS  PubMed  Google Scholar 

  24. Busquets C, et al. Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct. Pediatr Res. 2000;48(3):315–22.

    Article  CAS  PubMed  Google Scholar 

  25. Mühlhausen C, et al. Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I. J Inherit Metab Dis. 2003;26(7):713–4.

    Article  PubMed  Google Scholar 

  26. Hoffmann GF, et al. Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency. Neuropediatrics. 1996;27(3):115–23.

    Article  CAS  PubMed  Google Scholar 

  27. Kölker S, et al. Emergency treatment in glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis. 2004;27(6):893–902.

    Article  PubMed  Google Scholar 

Download references

Acknowledgements

We are grateful to Daryl Goodman and Susana San Roman, MS, CGC as well as the members of the Goodman Biochemical Laboratory for their previous retrospective analysis of metabolites in individuals with GA-1.

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Curtis R. Coughlin II MS, MBe, CGC .

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2015 Springer International Publishing Switzerland

About this chapter

Cite this chapter

Coughlin, C.R. (2015). Glutaric Acidemia Type I: Diagnosis and Management. In: Bernstein, L., Rohr, F., Helm, J. (eds) Nutrition Management of Inherited Metabolic Diseases. Springer, Cham. https://doi.org/10.1007/978-3-319-14621-8_18

Download citation

  • DOI: https://doi.org/10.1007/978-3-319-14621-8_18

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-14620-1

  • Online ISBN: 978-3-319-14621-8

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics