A rationale for cystine supplementation in severe homocystinuria

Journal of Inherited Metabolic Disease

Volumn 30, Issue 1, 2007, Pages 35-38

  Lee, P J ^a   Briddon, Anthony ^a  

^a NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTEINE; CYSTINE; HOMOCYSTINE;

ADULT; AGED; ALGORITHM; AMINO ACID BLOOD LEVEL; ARTICLE; CLINICAL ARTICLE; COBALAMIN C DEFICIENCY; DIET SUPPLEMENTATION; HOMOCYSTINURIA; HUMAN; INBORN ERROR OF METABOLISM; METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2) DEFICIENCY; TIME SERIES ANALYSIS;

ADULT; AGED; ALBUMINS; ALGORITHMS; CYSTEINE; DIETARY SUPPLEMENTS; HOMOCYSTINURIA; HUMANS; MIDDLE AGED; OXIDATION-REDUCTION; RISK FACTORS; SULFHYDRYL COMPOUNDS; TREATMENT OUTCOME;

EID: 33846415437     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-006-0452-3     Document Type: Article

References (9)

1. Briddon A (1998) Total plasma homocysteine as part of the routine aminogram by ion-exchange chromatography. Amino Acids 15: 235-239.
2. Briddon A (2003) Observations on albumin-aminothiol binding. J Inherit Metab Dis 26(Supplement 1): 51.
3. Fowler B (1997) Disorders of homocysteine metabolism. J Inherit Metab Dis 20: 731-741.
4. Hargreaves IP, Lee PJ, Briddon A (2002) Homocysteine and cysteine-albumin binding in homocystinuria: Assessment of cysteine status and implications for glutathione synthesis? Amino Acids 22: 109-118.
5. Moat SJ, Bonham JR, Tanner MS, Allen JC, Powers HJ (1995) Recommended approaches for the laboratory measurement of homocysteine in the diagnosis and monitoring of patients with hyperhomocysteinaemia. Ann Clin Biochem 36: 372-379.
6. Orendac M, Zeman J, Stabler SP, et al (2003) Homocystinuria due to cystathionine β-synthase deficiency: Novel biochemical findings and treatment efficacy. J Inherit Metab Dis 26: 761-773.
7. Togawa T, Sengupta S, Chen H, et al (2000) Mechanisms for the formation of protein-bound homocysteine in human plasma. Biochem Biophys Res Commun 277: 668-674.
8. Ueland PM, Mansoor MA, Guttormsen AB, et al (1996) Reduced, oxidised and protein-bound forms of homocysteine and other aminothiols in plasma comprise the redox thiol status - a possible element of the extracellular antioxidant defence mechanism. J Nutr 126: 1281S-1284S.
9. Wilcken DEL, Wilcken B (1997) The natural history of vascular disease in homocystinuria and the effects of treatment. J Inherit Metab Dis 20: 295-300.