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Homocysteine and cysteine loads in patients with homocystinuria due to cystathionine synthase deficiency: Effects of vitamin B-6 |
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| Authors: | David K. Rassin Riccardo C. Longhi Hans J. Sternowsky John A. Sturman Gerald E. Gaull |
| Affiliation: | 1. Department of Human Development and Genetics, New York State Institute for Basic Research in Mental Retardation, Staten Island, N.Y. 10314 U.S.A.;2. Department of Pediatrics, Mount Sinai School of Medicine of the City University of New York, New York, N.Y. 10029 U.S.A. |
| Abstract: | The metabolic response of patients with homocystinuria due to cystathionine synthase deficiency to oral loads of homocysteine indicates: that even severely affected patients with homocystinuria have pools of cystine in their tissues; that control of sulfur amino acid metabolism favors increased concentrations of methionine rather than homocystine in the plasma; and that even patients who apparently are not B-6-responsive respond differently to the loads of homocysteine when challenged during B-6-treatment compared with their response before B-6 treatment. Loading tests with homocysteine indicate that B-6 treatment be of some benefit even in individuals who do not have an obvious biochemical response to such therapy. |
| Keywords: | Address correspondence to: David K. Rassin Ph.D. Department of Human Development and Genetics New York State Institute for Basic Research in Mental Retardation 1050 Forest Hill Road Staten Island N.Y. 10314 U.S.A.. |
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