Type 2 Hyperprolinemia: Absence of ▵1-Pyrroline-5-Carboxylic Acid Dehydrogenase Activity

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Science  20 Sep 1974:
Vol. 185, Issue 4156, pp. 1053-1054
DOI: 10.1126/science.185.4156.1053


1-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 biochemical abnormalities in type 2 hyperprolinemia.