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Titolo:
Disposition of homocysteine in subjects heterozygous for homocystinuria due to cystathionine beta-synthase deficiency: Relationship between genotype and phenotype
Autore:
Guttormsen, AB; Ueland, PM; Kruger, WD; Kim, CE; Ose, L; Folling, I; Refsum, H;
Indirizzi:
Univ Bergen, LOCUS Homocysteine & Related Vitamins, N-5021 Bergen, Norway Univ Bergen Bergen Norway N-5021 Related Vitamins, N-5021 Bergen, Norway Fox Chase Canc Ctr, Div Populat Sci, Philadelphia, PA 19111 USA Fox Chase Canc Ctr Philadelphia PA USA 19111 , Philadelphia, PA 19111 USA Univ Oslo, Natl Hosp, Dept Med A, Lipid Clin, N-0027 Oslo, Norway Univ Oslo Oslo Norway N-0027 Dept Med A, Lipid Clin, N-0027 Oslo, Norway Cent Hosp Akershus, Endocrinol Sect, Nordbyhagen, Norway Cent Hosp Akershus Nordbyhagen Norway ocrinol Sect, Nordbyhagen, Norway
Titolo Testata:
AMERICAN JOURNAL OF MEDICAL GENETICS
fascicolo: 3, volume: 100, anno: 2001,
pagine: 204 - 213
SICI:
0148-7299(20010501)100:3<204:DOHISH>2.0.ZU;2-Z
Fonte:
ISI
Lingua:
ENG
Soggetto:
FACTOR-V-LEIDEN; METHYLENETETRAHYDROFOLATE REDUCTASE GENE; NEURAL-TUBE DEFECTS; PLASMA HOMOCYSTEINE; RISK FACTOR; VASCULAR-DISEASE; MILD HYPERHOMOCYSTEINEMIA; CARDIOVASCULAR-DISEASE; OBLIGATE HETEROZYGOTES; AMINO-ACIDS;
Keywords:
homocysteine; cystathionine beta-synthase; cystathionine; genotype; phenotype;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
46
Recensione:
Indirizzi per estratti:
Indirizzo: Guttormsen, AB Univ Bergen, Dept Pharmacol, Armauer Hansens Hus, N-5021 Bergen, Norway Univ Bergen Armauer Hansens Hus Bergen Norway N-5021 orway
Citazione:
A.B. Guttormsen et al., "Disposition of homocysteine in subjects heterozygous for homocystinuria due to cystathionine beta-synthase deficiency: Relationship between genotype and phenotype", AM J MED G, 100(3), 2001, pp. 204-213

Abstract

We have investigated 31 subjects from five unrelated families with one or more members with cystathionine P-synthase (CBS) deficiency. On the basis of their CBS genotype, the subjects were grouped as normal (n = 11) or heterozygotes (n = 20). Based on pyridoxine effect in the probands, the heterozygotes were further classified as pyridoxine-responsive (n = 9) or non-responsive (n = II). Heterozygous subjects had normal fasting total plasma homocysteine (tHcy), but median urinary tHcy excretion rate was significantly elevated compared to healthy controls (0.39 mu mol/h vs 0.24 mu mol/h, P < 0.05). An abnormal tHcy response after methionine loading identified 73% of the pyridoxine non-responsive heterozygotes, but only 33% of the pyridoxine responsive participants. The increase in cystathionine or the change in tHcy relative to cystathionine did not improve diagnostic accuracy of the methionine loading test. After Hey loading, the maximal increase in tHcy was significantly elevated, whereas t(1/2) was normal in heterozygotes. In conclusion, a single biochemical test cannot discriminate CBS heterozygotes from controls. Abnormal tHcy response after methionine loading was the most sensitive test. Our data suggest that the urinary tHcy excretion rate is a simple, non-invasive approach for studying mild disturbances in Hey metabolism.<(c)> 2001 Wiley Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 30/09/20 alle ore 07:49:05