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  • Title: Identification of PRODH mutations in Korean neonates with type I hyperprolinemia.
    Author: Jang MA, Kim BC, Ki CS, Lee SY, Kim JW, Choi TY, Lee DH, Song J, Lee YW, Park HD.
    Journal: Ann Clin Lab Sci; 2013; 43(1):31-6. PubMed ID: 23462603.
    Abstract:
    BACKGROUND: Hyperprolinemia is a rare inherited metabolic disorder characterized by a high proline level in blood and/or urine and various neuropsychiatric symptoms. Type I hyperprolinemia is caused by a proline oxidase deficiency, which is encoded by the PRODH gene on chromosome 22q11. Herein, we present a study of Korean patients with type I hyperprolinemia who were diagnosed during newborn screening by tandem mass spectrometry and confirmed by molecular analysis. METHODS: Four neonates were referred to our hospital for workup of high proline levels in newborn screening test. We analyzed the biochemical findings and the PRODH gene was amplified by long-range PCR to confirm molecular genetic abnormalities. RESULTS: All patients had high plasma proline levels, ranging from 742 to 1192 μmol/L (reference range, 77.4 - 244.6 μmol/L). In molecular analysis, 4 disease-associated mutant alleles were identified: c.1414G>A (p.A472T), c.1279G>A (p.V427M), c.1357C>T (p.R453C) and c.1562A>G (p.Q521R). All mutations were missense and c.1279G>A included the majority of mutant alleles. No relationships between type of mutation and clinical outcomes were observed. CONCLUSION: We found that distinct molecular alterations of the PRODH gene result in abnormal proline levels. Newborn screening and molecular analysis are necessary to identify patients before clinical expression of metabolic disease.
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