Résumé
L’homocystéine est un acide aminé non protéique qui apparaît comme intermédiaire dans le métabolisme des acides aminés soufrés. C’est le produit de déméthylation de la méthionine. Il peut soit donner de la cystéine dans la voie de la transsulfuration, soit redonner de la méthionine dans la voie de la reméthylation [1] (Figure 1).
Preview
Unable to display preview. Download preview PDF.
Références
Carmel R, Jakobsen DW (2001) Homocysteine in health and disease. Cambridge, Cambridge Univ. Press.
Mudd SH, Levy HL, Kraus JP (2001) Disorders of transsulfuration. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 8th ed. McGraw-Hill, New York, pp 2007–56
Yap S, Boers GH, Wilcken B, et al. (2001a) Vascular outcome in patients with hornocystinuria due to cystathionine beta-synthase deficiency treated chronically: a multicenter observational study. Arterioscler Thromb Vase Biol 21: 2080–85
Rosenblatt DS, Fenton WA (2001) Inherited disorders of folate and cobalamin transport and metabolism. In: Scriver CR, Beaudet AL, Valle D, Sly W. The Metabolic and Molecular Bases of Inherited Disease. New York, McGraw Hill, 3897–957
Whitehead VM (2006) Acquired and inherited disorders of cobalamin and folate in children. Br J Haematol 134(2):125–36
Fowler B, Leonard JV, Baumgartner MR (2008) Causes of and diagnostic approach to methylmalonic acidurias. J Inherit Metab Dis 31: 350–60
Ucar SK, Koroglu OA, Berk O, et al. (2010) Titration of betaine therapy to optimize therapy in an infant with 5,10-methylenetetrahydrofolate reductase deficiency. Eur J Pediatr 169: 241–3
Steinfeld R, Grapp M, Kraetzner R, et al. (2009) Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism. Am J Hum Genet. 85:354–63
Author information
Authors and Affiliations
Rights and permissions
Copyright information
© 2013 Springer-Verlag France
About this chapter
Cite this chapter
De Lonlay, P., Dubois, S., Valayannopoulos, V., Depondt, E., Ottolenghi, C., Rabier, D. (2013). Homocystinurie, métabolisme des folates et de la B12. In: Prise en charge médicale et diététique des maladies héréditaires du métabolisme. Springer, Paris. https://doi.org/10.1007/978-2-8178-0046-2_12
Download citation
DOI: https://doi.org/10.1007/978-2-8178-0046-2_12
Publisher Name: Springer, Paris
Print ISBN: 978-2-8178-0045-5
Online ISBN: 978-2-8178-0046-2
eBook Packages: MedicineMedicine (R0)