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triangle up(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.
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Valle et al. (1974) studied this question.
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