Free amino acids in liver of patients with homocystinuria due to cystathionine synthase deficiency: Effects of vitamin B6

David K. Rassin, Riccardo C. Longhi, Gerald E. Gaull

Research output: Contribution to journalArticlepeer-review

5 Scopus citations

Abstract

Patients with homocystinuria due to cystathionine synthase deficiency do not have free homocystine inthe liver when it is present in high concentrations in the plasma and the urine. The liver of these patients is capable of maintaining normal concentrations of cystine at a time when the plasma cystine concentration is severely reduced. There is an increase in the methionine concentration of the liver which is reduced to normal concentrations during pyridoxine therapy.

Original languageEnglish (US)
Pages (from-to)574-577
Number of pages4
JournalThe Journal of Pediatrics
Volume91
Issue number4
DOIs
StatePublished - Oct 1977
Externally publishedYes

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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