Identification of PRODH Mutations in Korean Neonates with Type 1 Hyperprolinemia
- Authors
- Jang, Mi-Ae; Kim, Byung Cheol; Ki, Chang-Seok; Lee, Soo-Youn; Kim, Jong-Won; Choi, Tae Youn; Lee, Dong Hwan; Song, Junghan; Lee, Yong-Wha; Park, Hyung-Doo
- Issue Date
- 2013
- Publisher
- Institute for Clinical Science
- Keywords
- Korean; mutation; PRODH; type I hyperprolinemia
- Citation
- Annals of Clinical and Laboratory Science, v.43, no.1, pp 31 - 36
- Pages
- 6
- Journal Title
- Annals of Clinical and Laboratory Science
- Volume
- 43
- Number
- 1
- Start Page
- 31
- End Page
- 36
- URI
- https://scholarworks.bwise.kr/sch/handle/2021.sw.sch/14555
- ISSN
- 0091-7370
1550-8080
- 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 mu mol/L (reference range, 77.4 - 244.6 mu mol/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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Collections - College of Medicine > Department of Clinical Pathology > 1. Journal Articles
- College of Medicine > Department of Pediatrics > 1. Journal Articles
- College of Medicine > Department of Clinical Pathology > 1. Journal Articles
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