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Literature DB >> 17186416

A rationale for cystine supplementation in severe homocystinuria.

Abstract

Previous studies have shown that the thiol redox, as measured by the ratio of free/bound cyst(e)ine in unaffected individuals, remains relatively constant. In severe homocystinuria (HCU) where cyst(e)ine moieties are significantly reduced, this redox is only restored when homocyst(e)ine moieties are also taken into account. This appears to stem from an increase in the free/bound homocyst(e)ine ratio with free homocystine acting as a surrogate for free cystine. We examined these ratios in 47 patients (two with a cobalamin C defect, two with methylenetetrahydrofolate reductase deficiency, 16 with pyridoxine-responsive HCU and 27 with pyridoxine-nonresponsive HCU). Comparing free/bound homocyst(e)ine ratios to the total cysteine concentration indicates a relative increase of free homocystine as total cysteine concentrations fall below 170 micromol/L. This provides a rationale and treatment algorithm for cyst(e)ine supplementation in homocystinuria.

Entities: Chemical Disease Species

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Year: 2006 PMID： 17186416 DOI： 10.1007/s10545-006-0452-3

Source DB: PubMed Journal: J Inherit Metab Dis ISSN： 0141-8955 Impact factor: 4.982

8 in total

1. Homocysteine and cysteine - albumin binding in homocystinuria: assessment of cysteine status and implications for glutathione synthesis?

Authors: I P Hargreaves; P J Lee; A Briddon
Journal: Amino Acids Date: 2002 Impact factor: 3.520

2. The natural history of vascular disease in homocystinuria and the effects of treatment.

Authors: D E Wilcken; B Wilcken
Journal: J Inherit Metab Dis Date: 1997-06 Impact factor: 4.982

3. Mechanisms for the formation of protein-bound homocysteine in human plasma.

Authors: T Togawa; S Sengupta; H Chen; K Robinson; I Nonevski; A K Majors; D W Jacobsen
Journal: Biochem Biophys Res Commun Date: 2000-11-02 Impact factor: 3.575

4. Recommended approaches for the laboratory measurement of homocysteine in the diagnosis and monitoring of patients with hyperhomocysteinaemia.

Authors: S J Moat; J R Bonham; M S Tanner; J C Allen; H J Powers
Journal: Ann Clin Biochem Date: 1999-05 Impact factor: 2.057

5. Folate-responsive homocystinuria and megaloblastic anaemia in a female patient with functional methionine synthase deficiency (cblE disease).

Authors: B Fowler; R B Schutgens; D S Rosenblatt; G P Smit; J Lindemans
Journal: J Inherit Metab Dis Date: 1997-11 Impact factor: 4.982

Review 6. Reduced, oxidized and protein-bound forms of homocysteine and other aminothiols in plasma comprise the redox thiol status--a possible element of the extracellular antioxidant defense system.

Authors: P M Ueland; M A Mansoor; A B Guttormsen; F Müller; P Aukrust; H Refsum; A M Svardal
Journal: J Nutr Date: 1996-04 Impact factor: 4.798

7. Homocystinuria due to cystathionine beta-synthase deficiency: novel biochemical findings and treatment efficacy.

Authors: M Orendác; J Zeman; S P Stabler; R H Allen; J P Kraus; O Bodamer; S Stöckler-Ipsiroglu; J Kvasnicka; V Kozich
Journal: J Inherit Metab Dis Date: 2003 Impact factor: 4.982

8. Total plasma homocysteine as part of the routine aminogram by ion-exchange chromatography.

Authors: A Briddon
Journal: Amino Acids Date: 1998 Impact factor: 3.520

8 in total

6 in total

1. Effect of cysteine dosage on erythrocyte glutathione synthesis rate in a patient with cystathionine beta synthase deficiency.

Authors: S N van der Crabben; F A Wijburg; M T Ackermans; H P Sauerwein
Journal: J Inherit Metab Dis Date: 2008-01-24 Impact factor: 4.982

2. Altered hepatic sulfur metabolism in cystathionine β-synthase-deficient homocystinuria: regulatory role of taurine on competing cysteine oxidation pathways.

Authors: Hua Jiang; Sally P Stabler; Robert H Allen; Steven H Abman; Kenneth N Maclean
Journal: FASEB J Date: 2014-06-02 Impact factor: 5.191

3. Growth Patterns in the Irish Pyridoxine Nonresponsive Homocystinuria Population and the Influence of Metabolic Control and Protein Intake.

Authors: Orla Purcell; Aoife Coughlan; Tim Grant; Jenny McNulty; Anne Clark; Deirdre Deverell; Philip Mayne; Joanne Hughes; Ahmad Monavari; Ina Knerr; Ellen Crushell
Journal: J Nutr Metab Date: 2017-11-15