Abstract
The disorders of valine and isoleucine metabolism comprise quite distinct diseases.
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
References
Dabbagh, O., Brismar, J., Gascon, G.G. and Ozand, RT. (1994) The clinical spectrum of biotin-treatable encephalopathies in Saudi Arabia. Brain and Development 16, 72.
Lott, I. T., Lottenberg, S., Nyhan, W. L. and Buchsbaum, M. J. (1993) Cerebral metabolic change after treatment in biotinidase deficiency. J. Inher. Metab. Dis., 16, 399.
Suzuki, Y., Aoki, Y, Ishida, Y. et al (1994) Isolation and chart acterization of mutations in the holocarboxylase synthetase cDNA. Nature Genet 8, 122.
Burri, B. J., Sweetman, L. and Nyhan, W. L. (1985) Heterogeneity of holocarboxylase synthetase in patients with bio tin-responsive multiple carboxylase deficiency. Am. J. Hum. Genet., 37, 326.
Childs, B., Nyhan, W. I., Borden, M. A. et al. (1961) Idiopathic hyperglycinemia and hyperglycinuria, a new disorder of amino acid metabolism. Pediatrics, 27, 522.
Nyhan, W. L., Bay C, Beyer, E. G., and Mazi, M. (1999) Neurologic nonmetabolic presentation of propionic acidemia. Arch. Neurol, 56, 1143.
Aramaki, S., Lehotay, D., Sweetman, L. et al. (1991) Urinary excretion of 2-methylacetoacetate, 2-methyl-3-hydroxybutyrate and tiglylglycine after isoleucine loading in the diagnosis of 2-methylacetoacetyl-CoA thiolase deficiency. J. Inher. Metab. Dis. 14, 63.
Chambliss, K. L., Gray, R. G. R, Rylance, G., Pollitt, R. J., and Gibson, K. M. (2000) Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency. J. Inher. Metab. Dis., 23, 497.
Ko, E J., Nyhan, W. L., Wolff, J. et al. (1991) 3-Hydroxyisobutyric aciduria: An inborn error of valine metabolism. Pediatr. Res., 30, 322.
Gibson, K. M., Lee, C. E, Bennett, M. J. et al. (1993) Combined malonic, methylmalonic and ethylmalonic acid semialdehyde dehydrogenase deficiencies: An inborn error of β-alanine, L-valine and L-alloisoleucine metabolism? J. Inher. Metab. Dis., 16, 563.
Gibson, K. M., Burlingame, T. G., Hogema, B., et al. (2000) 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: A new inborn error of L-isoleucine metabolism, Pediatr. Res., 47, 830.
Andresen, B. S., Christensen, E., Corydon, T. J. et al. (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 fordistinct acyl-CoA dehydrogenases in isoleucine and valine metabolism. Am. J. Hum. Genet., 67, 1095.
Zschocke, J., Ruiter, J. P. N., Brand, J., et al.. (2000) Progressive infantile neuro-degeneration caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: A novel inborn error of branched-chain fatty acid and isoleucine metabolism. Pediatr. Res., 48, 852.
Shevell, M.A., Matiaszuk, N., Ledley, ED. and Rosenblatt, D.S. (1993) Varying neurological phenotypes among mutº and mut- patients with methylmalonyl CoA mutase deficiency. Am. J. Med. Genet. 45, 619.
Ney, D. N., Bay, C, Saudubray, J.-M. et al. (1985) An evaluation of protein requirements in methylmalonic acidaemia. J. Inher. Metab. Dis., 8, 132.
Mitchell, G. A., Watkins, D., Melancon, S. B. et al. (1986) Clinical heterogeneity in cobalamin C variant of combined homocystinuria and methylmalonic aciduria. J. Pediatr., 108, 410.
Watkins, D. and Rosenblatt, D. S. (1986) Failure of lysosomal release of vitamin B-12: A new complementation group causing methylmalonic aciduria (cbl F). Am. J. Hum. Genet, 39, 404.
Brown, G.K., Hunt, S.M. Scholem, R., Fowler, K., Grimes, A., Mercer, J.F.B., Truscott, R.M., Cotton, R.G.H., Rogers, J.G. and Danks, D.M. (1982) Beta-hydroxyisobutyryl coenzyme A deacylase deficiency: a defect in valine metabolism associated with physical malformations. Pediatr. 70, 532–538.
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2003 Springer-Verlag Berlin Heidelberg
About this chapter
Cite this chapter
Nyhan, W.L., Gibson, K.M. (2003). Disorders of Valine-Isoleucine Metabolism. In: Blau, N., Duran, M., Blaskovics, M.E., Gibson, K.M. (eds) Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-55878-8_13
Download citation
DOI: https://doi.org/10.1007/978-3-642-55878-8_13
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-642-62709-5
Online ISBN: 978-3-642-55878-8
eBook Packages: Springer Book Archive