Mol Genet Metab. 2010 Jan;99(1):1-3.

A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency.

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Department of Clinical Genetics, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.

Abstract

We review the evidence that in Denmark and probably certain other European countries the number of individuals identified with homocystinuria due to homozygosity for the widespread c.833T>C (p.I278T) mutation in the gene that encodes cystathionine beta-synthase (CBS) falls far short of the number of such individuals expected on the basis of the heterozygote frequency for this mutation found by molecular screening. We conclude that the predominant portion of such homozygotes may be clinically unaffected, or may be ascertained for thromboembolic events occurring no sooner than the third decade of life. If so, there was significant ascertainment bias in the time-to-event curves previously published describing the natural history of untreated CBS deficiency Mudd et al. and these curves should be used with care.

PMID:: 19819175; [PubMed - indexed for MEDLINE]
PMCID:: PMC2795104

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Cystathionine beta-Synthase

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Z99 MH999999/MH/NIMH NIH HHS/United States

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Cited by 3 PubMed Central articles

Cystathionine beta-synthase mutants exhibit changes in protein unfolding: conformational analysis of misfolded variants in crude cell extracts. [J Inherit Metab Dis. 2012]
Cystathionine beta-synthase mutants exhibit changes in protein unfolding: conformational analysis of misfolded variants in crude cell extracts.
Hnízda A, Jurga V, Raková K, Kožich V. J Inherit Metab Dis. 2012 May; 35(3):469-77. Epub 2011 Nov 9.
Determination of cystathionine beta-synthase activity in human plasma by LC-MS/MS: potential use in diagnosis of CBS deficiency. [J Inherit Metab Dis. 2011]
Determination of cystathionine beta-synthase activity in human plasma by LC-MS/MS: potential use in diagnosis of CBS deficiency.
Krijt J, Kopecká J, Hnízda A, Moat S, Kluijtmans LA, Mayne P, Kožich V. J Inherit Metab Dis. 2011 Feb; 34(1):49-55. Epub 2010 Sep 7.
Vascular presentation of cystathionine beta-synthase deficiency in adulthood. [J Inherit Metab Dis. 2011]
Vascular presentation of cystathionine beta-synthase deficiency in adulthood.
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