Skip to main content
  • 1069 Accesses

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 S (1997) Propionic or methylmalonic acidemia. In: Sproat KV (ed) The Ross metabolic formula system nutritional support protocols, 3rd edn. Ross Products Division, Columbus, OH, pp 245–276

    Google Scholar 

  2. Andersson HC, Marble M, Shapira E (1999) Long-term outcome in treated combined methylmalonic acidemia and homocystinemia. Genet Med 1:146–150

    Article  CAS  PubMed  Google Scholar 

  3. Andresen BS, Christensen E, Corydon TJ, Bross P, Pilgaard B, Wanders RJ, Ruiter JP, Simonsen H, Winter V, Knudsen I, Schroeder LD, Gregersen N, Skovby F (2000) Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metabolism. Am J Hum Genet 67:1095–1103

    Article  CAS  PubMed  Google Scholar 

  4. Brown GK, Hunt SM, Scholem R, Fowler K, Grimes A, Mercer JF, Truscott RM, Cotton RG, Rogers JG, Danks DM (1982) Beta-hydroxyisobutyryl coenzyme A deacylase deficiency: a defect in valine metabolism associatedwith physical malformations. Pediatrics 70:532–538

    CAS  PubMed  Google Scholar 

  5. Chakrapani A, Sivakumar P, McKiernan PJ, Leonard JV (2002) Metabolic stroke in methylmalonic acidemia five years after liver transplantation. J Pediatr 140:261–263

    PubMed  Google Scholar 

  6. Ensenauer R, Niederhoff H, Ruiter JP, Wanders RJ, Schwab KO, Brandis M, Lehnert W (2002) Clinical variability in 3-hydroxy-2-methylbutyryl-CoAdehydrogenase deficiency. Ann Neurol 51:656–659

    Article  PubMed  Google Scholar 

  7. Fukao T, Scriver CR, Kondo N (2001) The clinical phenotype and outcome of mitochondrial acetoacetyl-CoA thiolase deficiency (beta-ketothiolase or T2 deficiency) in 26 enzymatically proved and mutation-defined patients. Mol Genet Metab 72:109–114

    Article  CAS  PubMed  Google Scholar 

  8. Gibson KM, Burlingame TG, Hogema B, Jakobs C, Schutgens RB, Millington D, Roe CR, Roe DS, Sweetman L, Steiner RD, Linck L, Pohowalla P, Sacks M, Kiss D, Rinaldo P, Vockley J (2000) 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of l-isoleucine metabolism. Pediatr Res 47:830–833

    CAS  PubMed  Google Scholar 

  9. Haas RH, Marsden DL, Capistrano-Estrada S, Hamilton R, Grafe MR, Wong W, Nyhan WL (1995) Acute basal ganglia infarction in propionic acidemia. J Child Neurol 10:18–22

    Article  CAS  PubMed  Google Scholar 

  10. Kahler SG, Millington DS, Cederbaum SD, Vargas J, Bond LD, Maltby DA, Gale DS, Roe CR (1989) Parenteral nutrition in propionic and methylmalonic acidemia. J Pediatr 115:235–241

    CAS  PubMed  Google Scholar 

  11. Kahler SG, Sherwood WG, Woolf D, Lawless ST, Zaritsky A, Bonham J, Taylor CJ, Clarke JT, Durie P, Leonard JV (1994) Pancreatitis in patients with organic acidemias. J Pediatr 124:239–243

    CAS  PubMed  Google Scholar 

  12. Kayler LK, Merion RM, Lee S, Sung RS, Punch JD, Rudich SM, Turcotte JG, Campbell DA, Jr., Holmes R, Magee JC (2002) Long-term survival after liver transplantation in children with metabolic disorders. Pediatr Transplant 6:295–300

    Article  PubMed  Google Scholar 

  13. Ko FJ, Nyhan WL, Wolff J, Barshop B, Sweetman L (1991) 3-Hydroxyisobutyric aciduria: an inborn error of valine metabolism. Pediatr Res 30:322–326

    CAS  PubMed  Google Scholar 

  14. Matsui SM, Mahoney MJ, Rosenberg LE (1983) The natural history of the inherited methylmalonic acidemias. N Engl J Med 308:857–861

    Article  CAS  PubMed  Google Scholar 

  15. Moslinger D, Stockler-Ipsiroglu S, Scheibenreiter S, Tiefenthaler M, Muhl A, Seidl R, Strobl W, Plecko B, Suormala T, Baumgartner ER (2001) Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria. Eur J Pediatr 160:277–282

    CAS  PubMed  Google Scholar 

  16. Ney D, Bay C, Saudubray JM, Kelts DG, Kulovich S, Sweetman L, Nyhan WL (1985) An evaluation of protein requirements in methylmalonic acidaemia. J Inherit.Metab Dis 8:132–142

    Article  CAS  PubMed  Google Scholar 

  17. Nguyen TV, Andresen BS, Corydon TJ, Ghisla S, Abd-El Razik N, Mohsen AW, Cederbaum SD, Roe DS, Roe CR, Lench NJ, Vockley J (2002) Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans. Mol Genet Metab 77:68–79

    Article  CAS  PubMed  Google Scholar 

  18. Nyhan WL, Gargus JJ, Boyle K, Selby R, Koch R (2002) Progressive neurological disability in methylmalonic acidemia despite transplantation of the liver. Eur J Pediatr 161:377–379

    Article  PubMed  Google Scholar 

  19. Sasaki M, Kimura M, Sugai K, Hashimoto T, Yamaguchi S (1998) 3-Hydroxyisobutyric aciduria in two brothers. Pediatr Neurol 18:253–255

    CAS  PubMed  Google Scholar 

  20. Sasaki M, Iwata H, Sugai K, Fukumizu M, Kimura M, Yamaguchi S (2001) A severely brain-damaged case of 3-hydroxyisobutyric aciduria. Brain Dev 23:243–245

    CAS  PubMed  Google Scholar 

  21. Tuchman M, Yudkoff M (1999) Blood levels of ammonia and nitrogen scavenging amino acids in patients with inherited hyperammonemia. Mol Genet Metab 66:10–15

    Article  CAS  PubMed  Google Scholar 

  22. Van Calcar SC, Harding CO, Lyne P, Hogan K, Banerjee R, Sollinger H, Rieselbach RE, Wolff JA (1998) Renal transplantation in a patient with methylmalonic acidaemia. J Inherit Metab Dis 21:729–737

    PubMed  Google Scholar 

  23. Vukmir RB, Bircher N, Safar P (1996) Sodiumbicarbonate in cardiac arrest: a reappraisal. Am J Emerg Med 14:192–206

    Article  CAS  PubMed  Google Scholar 

  24. Waggoner DJ, Ueda K, Mantia C, Dowton SB (1998) Methylmalonic aciduria (CblF): case report and response to therapy. Am J Med Genet 79:373–375

    Article  CAS  PubMed  Google Scholar 

  25. Wolf B (2002) Children with profound biotinidase deficiency should be treated with biotin regardless of their residual enzyme activity or genotype. Eur J Pediatr 161:167–168

    CAS  PubMed  Google Scholar 

  26. Yorifuji T, Muroi J, Uematsu A, Nakahata T, Egawa H, Tanaka K (2000) Living-related liver transplantation for neonatal-onset propionic acidemia. J Pediatr 137:572–574

    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

Barshop, B.A. (2006). Disorders of Valine-Isoleucine 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_9

Download citation

  • DOI: https://doi.org/10.1007/3-540-28962-3_9

  • 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