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 229.00
Price excludes VAT (USA)
  • Available as 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

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Acosta PB, Yannicelli (2001) The Ross metabolic formula system, nutrition support protocols, 4th edn. Ross Products Division, Abbott Laboratories, Columbus, OH

    Google Scholar 

  2. Barth PG, Wanders RJ, Vreken P, Janssen EA, Lam J, Baas F (1999) X-linked cardioskeletal myopathy and neutropenia (Barth syndrome). J Inherit Metab Dis 22:555–567

    Article  CAS  PubMed  Google Scholar 

  3. Berry GT, Heidenreich R, Kaplan P, Levine F, Mazur A, Palmieri MJ, Yudkoff M, Segal S (1991) Branched-chain amino acid-free parenteral nutrition in the treatment of acute metabolic decompensation in patients with maple syrup urine disease. N Engl J Med 324:175–179

    Article  CAS  PubMed  Google Scholar 

  4. Chuang DT, Shih VE (2001) Maple syrup urine disease (branched-chain ketoaciduria). In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 1971–2005

    Google Scholar 

  5. Costeff H, Gadoth N, Apter N, Prialnic M, Savir H (1989) Afamilial syndrome of infantile optic atrophy, movement disorder, and spastic paraplegia. Neurology 39:595–597

    CAS  PubMed  Google Scholar 

  6. Dasouki M, Buchanan D, Mercer N, Gibson KM, Thoene J (1987) 3-Hydroxy-3-methylglutaric aciduria: response to carnitine therapy and fat and leucine restriction. J Inherit Metab Dis 10:142–146

    Article  CAS  PubMed  Google Scholar 

  7. Elpeleg ON, Costeff H, Joseph A, Shental Y, Weitz R, Gibson KM (1994) 3-Methylglutaconic aciduria in the Iraqi-Jewish “optic atrophy plus” (Costeff) syndrome. Dev Med Child Neurol 36:167–172

    CAS  PubMed  Google Scholar 

  8. Fries MH, Rinaldo P, Schmidt-Sommerfeld E, Jurecki E, Packman S (1996) Isovaleric acidemia: response to a leucine load after 3 weeks of supplementation with glycine, L-carnitine, and combined glycine-carnitine therapy. J Pediatr 129:449–452

    CAS  PubMed  Google Scholar 

  9. Gibson KM, Breuer J, Nyhan WL (1988) 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency. Review of 18 reported patients. Eur J Pediatr 148:180–186

    CAS  PubMed  Google Scholar 

  10. Gibson KM, Bennett MJ, Naylor EW, Morton DH (1998) 3-Methylcrotonyl-coenzyme Acarboxylase deficiency inAmish/Mennonite adults identified by detection of increased acylcarnitines in blood spots of their children. J Pediatr 132:519–523

    CAS  PubMed  Google Scholar 

  11. Jouvet P, Jugie M, Rabier D, Desgres J, Hubert P, Saudubray J, Man NK (2001) Combined nutritional support and continuous extracorporeal removal therapy in the severe acute phase of maple syrup urine disease. Intensive Care Med 27:1798–806

    Article  CAS  PubMed  Google Scholar 

  12. Kaplan P, Mazur A, Field M, Berlin JA, Berry GT, Heidenreich R, Yudkoff M, Segal S (1991) Intellectual outcome in children with maple syrup urine disease. J Pediatr 119:46–50

    CAS  PubMed  Google Scholar 

  13. Morton DH, Strauss KA, Robinson DL, Puffenberger EG, Kelley RI (2002) Diagnosis and treatment of maple syrup disease: A study of 36 patients. Pediatrics 109:999–1008

    Article  PubMed  Google Scholar 

  14. Naglak M, Salvo R, Madsen K, Dembure P, Elsas L (1988) The treatment of isovaleric acidemia with glycine supplement. Pediatr Res 24:9–13

    CAS  PubMed  Google Scholar 

  15. Ogier de Baulny H, Saudubray JM (2002) Branched-chain organic acidurias. Semin Neonatol 7:65–74

    Google Scholar 

  16. Ostman-Smith I, Brown G, Johnson A, Land JM (1994) Dilated cardiomyopathy due to type II X-linked 3-methylglutaconic aciduria: successful treatment with pantothenic acid. Br Heart J 72:349–353

    CAS  PubMed  Google Scholar 

  17. Sousa C de, Chalmers RA, Stacey TE, Tracey BM, Weaver CM, Bradley D (1986) The response to l-carnitine and glycine therapy in isovaleric acidaemia. Eur J Pediatr 144:451–456

    Article  PubMed  Google Scholar 

  18. Strauss KA, Morton DH (2003) Branched-chain ketoacyl dehydrogenase deficiency: maple syrup disease. Curr Treat Options Neurol 5:329–341

    PubMed  Google Scholar 

  19. Sweetman L, Williams JC (2001) Branched-chain organic acidurias. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 2125–2163

    Google Scholar 

  20. Thompson GN, Chalmers RA, Halliday D (1990) The contribution of protein catabolism to metabolic decompensation in 3-hydroxy-3-methylglutaric aciduria. Eur J Pediatr 149:346–350

    CAS  PubMed  Google Scholar 

Download references

Authors

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2006 Springer-Verlag Berlin Heidelberg

About this chapter

Cite this chapter

Wappner, R.S., Gibson, K.M. (2006). Disorders of Leucine Metabolism. In: Blau, N., Leonard, J., Hoffmann, G.F., Clarke, J.T.R. (eds) Physician’s Guide to the Treatment and Follow-Up of Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/3-540-28962-3_8

Download citation

  • DOI: https://doi.org/10.1007/3-540-28962-3_8

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-540-22954-4

  • Online ISBN: 978-3-540-28962-3

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics