Abstract
This chapter deals with disorders in the catabolism of the dipeptides carnosine (carnosinemia) and homocarnosine (homocarnosinosis) and of the imidodipeptides (imidodipeptiduria, prolidase or peptidase D deficiency) Diseases due to defects in the metabolism of the tripeptide glutathione are discussed in Larsson (this volume).
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Perry TL, Hansen S, Tischler B, Bunting R, Berry K (1967) Carnosinemia: a new metabolic disorder associated with neurological disease and mental defect. N Engl J Med 277: 1219–1227
Cohen M, Hartlage PL, Krawiecki N, Roesel RA, Carter AL, Hommes FA (1985) Serum carnosinase deficiency: a non-disabling phenotype? J Ment Defic, Res 29: 383–389
Sjaastadt O, Berstadt J, Gjesdahl P, Gjessing L(1976) Homocarnosinosis. 2. A familial metabolic
disorder associated with spastic paraplegia, progres- sive mental deficiency, and retinal pigmentation.
Acta Neurol Scand 53: 275–290
Lenney JF, Peppers SC, Kucera CM, Sjaastadt O(1983) Homocarnosinosis: lack of serum carnosinase is the defect probably responsible for elevated and CSF homocarnosine. Clin Chim Acta 132: 157–165
Goodman SI, Solomons CC, Muschenheim F, Macintyre CA, Miles B, O’Brien D (1968) A syndrome resembling lathyrism associated with iminodipeptiduria. Am J Med 45: 152–159
Larregue M, Charpentier C, Laidet B, Lambert M, Bressieux J-M (1982) Déficit en prolidase
Arata J, Hatakenaka K, Oono T (1986) Effect of topical application of glycine and proline on recalci trant leg ulcers of prolidase deficiency. Arch Dermatol 122: 626–627
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 1995 Springer-Verlag Berlin Heidelberg
About this chapter
Cite this chapter
Jaeken, J. (1995). Disorders of Small Peptides. In: Fernandes, J., Saudubray, JM., Van den Berghe, G., Tada, K., Buist, N.R.M. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-03147-6_19
Download citation
DOI: https://doi.org/10.1007/978-3-662-03147-6_19
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-662-03149-0
Online ISBN: 978-3-662-03147-6
eBook Packages: Springer Book Archive