Abstract
Studies are reported on a patient with Type II hyperprolinemia. The results indicate that there is a defect in the metabolism of both proline and hydroxyproline in this disorder, and that the prime o-aminobenzaldehyde positive compound in the urine of these patients is Δ 1-pyrroline-3-hydroxy-5-carboxylic acid. Deficiencies of either Δ 1-pyrroline-5-carboxylic acid dehydrogenase or proline oxidase are compatible with the biochemical phenotype, and direct enzyme assays will be necessary to settle this point.
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