Pathological findings in homocystinuria

Gibson, James B.; Carson, Nina A. J.; Neill, D. W.

doi:10.1136/jcp.17.4.427

Cited by 207 publications

(77 citation statements)

References 17 publications

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“…Fatty infiltration was observed in the liver in all cases examined [10]. MUDD et al [16] demonstrated that Homocystinuria was discovered by FIELD et al [4] in there was a deficiency of cystathionine synthetase Northern Ireland and by GERRITSEN et al [8] in the (4.2.1.13) activity in the liver of a typical case who was United States of America.…”

Section: Introductionmentioning

confidence: 97%

The Biosynthesis of Cystathionine in Patients with Homocystinuria

1968

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Section: Introductionmentioning

confidence: 97%

The Biosynthesis of Cystathionine in Patients with Homocystinuria

1968

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“…There are at least two lines ofevidence which suggest that excessive homocystine may be associated with atherosclerotic coronary artery disease. First, patients with untreated homocystinuria have a greatly increased tendency to develop severe atherosclerosis and intravascular thromboembolism (1,2). A second line of evidence is the experimental production of preatherosclerotic and atherosclerotic lesions in baboons by a continuous infusion ofhomocystine (3).…”

Section: Introductionmentioning

confidence: 99%

Protein-bound homocyst(e)ine. A possible risk factor for coronary artery disease.

Kang¹,

Wong²,

Cook³

et al. 1986

J. Clin. Invest.

270

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The development of atherosclerotic changes and thromboembolism are common features in homocystinurics. Hence, we postulate a positive correlation between the level of homocyst(e)ine in the blood and the occurrence of coronary artery disease. Homocysteine is found either as free homocystine, cysteine-homocysteine mixed disulfide, or protein-bound homocyst(e)ine. In nonhomocystinuric subjects, most homocysteine molecules are detectable in the protein-bound form. Thus, protein-bound homocyst(e)ine in stored plasma which reflected total plasma homocyst(e)ine was determined in 241 patients with coronary artery disease (173 males and 68 females). The mean±SD total plasma homocyst(e)ine was 5.41±1.62 nmol/ml in male patients, 437±1.09 nmol/ml in male controls, 5.66±1.93 nmol/ml in female patients, and 4.16±1.62 nmol/ml in female controls. The differences between the patients with coronary artery disease and the controls were statistically significant (P < 0.0005).

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“…Several factors may impede effective homocysteine metabolism. Genetic factors, such as homozygosity for cystathionine-␤ -synthase (CBS 1 ; EC 4.2.1.22) deficiency or 5,10-methylenetetrahydrofolate reductase (MTHFR; EC 1.7.99.5) deficiency, may result in severe hyperhomocyst(e)inemia 2 with serious clinical sequelae, e.g., advanced atherosclerosis of major arteries and/or vascular thrombosis at an early age (9)(10)(11). Milder impairment of enzymes involved in homocysteine metabolism is associated with an increased risk for neural tube defect pregnancies (12) and premature vascular diseases (13)(14)(15).…”

Section: Introductionmentioning

confidence: 99%

The effect of a subnormal vitamin B-6 status on homocysteine metabolism.

Ubbink¹,

Merwe²,

Delport³

et al. 1996

J. Clin. Invest.

228

112

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Homocysteine, an atherogenic amino acid, is either remethylated to methionine or metabolized to cysteine by the transsulfuration pathway. The biochemical conversion of homocysteine to cysteine is dependent upon two consecutive, vitamin B-6-dependent reactions.To study the effect of a selective vitamin B-6 deficiency on transsulfuration, we performed oral methionine load tests on 22 vitamin B-6-deficient asthma patients treated with theophylline (a vitamin B-6 antagonist) and 24 age-and sex-matched controls with a normal vitamin B-6 status. Both groups had normal circulating vitamin B-12 and folate concentrations. Methionine loading resulted in significantly higher increases in circulating total homocyst(e)ine ( P Ͻ 0.01) and cystathionine ( P Ͻ 0.05) concentrations in vitamin B-6-deficient patients compared with controls. 6 wk of vitamin B-6 supplementation (20 mg/d) significantly ( P Ͻ 0.05) reduced post-methionine load increases in circulating total homocyst(e)ine concentrations in deficient subjects, but had no significant effect on the increase in total homocyst(e)ine concentrations in controls. The increases in post-methionine load circulating cystathionine concentrations were significantly ( P Ͻ 0.01) reduced in both groups after vitamin supplementation.It is concluded that a vitamin B-6 deficiency may contribute to impaired transsulfuration and an abnormal methionine load test, which is associated with premature vascular disease. ( J. Clin. Invest. 1996. 98:177-184.) Key words: folate • methionine • coronary heart disease • vitamin B-12 • cystathionine

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Pathological findings in homocystinuria

Cited by 207 publications

References 17 publications

The Biosynthesis of Cystathionine in Patients with Homocystinuria

The Biosynthesis of Cystathionine in Patients with Homocystinuria

Protein-bound homocyst(e)ine. A possible risk factor for coronary artery disease.

The effect of a subnormal vitamin B-6 status on homocysteine metabolism.

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