Use of tetrahydropterins in the treatment of hyperphenylalaninemia due to defective synthesis of tetrahydrobiopterin: Evidence that peripherally administered tetrahydropterins enter the brain

S. Kaufman, G. Kapatos, R. R. McInnes, J. D. Schulman, W. B. Rizzo

Research output: Contribution to journalArticle

59 Scopus citations

Abstract

Substantial amounts of tetrahydrobiopterin and 6-methyltetrahydropterin can be detected in CSF when these pterins are given peripherally to patients with hyperphenylalaninemia due to defective biopterin synthesis. Results of this study suggest that administration of either of these pterins in proper doses may prove to be a treatment not only for the impaired peripheral phenylalanine metabolism, but also for the neurologic disorders that are characteristic of the variant forms of hyperphenylalaninemia due to defective tetrahydrobiopterin synthesis or metabolism.

Original languageEnglish (US)
Pages (from-to)376-380
Number of pages5
JournalPediatrics
Volume70
Issue number3
StatePublished - 1982

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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