Homocysteine and cysteine loads in patients with homocystinuria due to cystathionine synthase deficiency: Effects of vitamin B-6

David K. Rassin, Riccardo C. Longhi, Hans J. Sternowsky, John A. Sturman, Gerald E. Gaull

Research output: Contribution to journalArticle

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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.

Original languageEnglish (US)
Pages (from-to)197-210
Number of pages14
JournalClinica Chimica Acta
Volume79
Issue number1
DOIs
StatePublished - Aug 15 1977
Externally publishedYes

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ASJC Scopus subject areas

  • Biochemistry
  • Clinical Biochemistry

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