Type 2 hyperprolinemia: Absence of Δ1-pyrroline-5- carboxylic acid dehydrogenase activity

David L. Valle, James M. Phang, Stephen I. Goodman

Research output: Contribution to journalArticlepeer-review

27 Scopus citations

Abstract

Δ1-Pyrroline-5-carboxylic acid dehydrogenase activity was measured radioisotopically in normal and type 2 hyperprolinemia fibroblasts. The type 2 cells had no detectable activity over a range of reaction conditions whereas normal cells had easily measurable activity. This enzymatic defect accounts for the biochemnical abnormalities in type 2 hyperprolinemia.

Original languageEnglish (US)
Pages (from-to)1053-1054
Number of pages2
JournalScience
Volume185
Issue number4156
DOIs
StatePublished - 1974
Externally publishedYes

ASJC Scopus subject areas

  • General

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