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Neuropediatrics 2012; 43(06): 295-304
DOI: 10.1055/s-0032-1329883
Review Article
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Treatment of Inherited Homocystinurias

Manuel Schiff
1   Reference Center for Inherited Metabolic Diseases, APHP and Inserm U676, Hôpital Robert Debré, Paris, France
,
Henk J. Blom
2   Metabolic Unit, Department of Clinical Chemistry and Institute for Cardiovascular Research (ICaR-VU), VU University Medical Center Amsterdam, The Netherlands
› Author Affiliations
Further Information

Publication History

19 June 2012

11 September 2012

Publication Date:
02 November 2012 (online)

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Abstract

Inherited homocystinurias, have in common, accumulation of homocysteine with subsequent neurotoxicity; they also encompass two distinctive clinical entities: classical homocystinuria due to cystathionine β-synthase (CBS) deficiency and the rare inborn errors of cobalamin and folate metabolism. In the latter group, remethylation disorders of homocysteine to methionine (chiefly CblC defect and 5,10-methylenetetrahydrofolate reductase [MTHFR] deficiency) are by far the most frequently encountered situations. The natural history of CBS deficiency is relatively well known and described. Similarly, clinical presentations of remethylation defects are becoming better recognized and reported. Conversely, few data are available regarding treatment of these disorders, especially for remethylation defects. In this review, after an overview of the metabolic pathophysiology and the clinical features of inherited homocystinurias due to CBS deficiency, CblC defect, and MTHFR deficiency, we focus on present and prospective therapeutic approaches.

Keywords

homocystinurias - cystathionine β-synthase deficiency - remethylation disorders
 

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