Spectrum of patients with hypermethioninemia based on neonatal screening tests over 14 years
Purpose : The neonatal screening test for homocystinuria primarily measures methionine by using a dried blood specimen. We investigated the incidence and clinical manifestations of homocystinuria, isolated hypermethioninemia, and transient hypermethioninemia among patients with hypermethioninemia on...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Korean Pediatric Society
2010-03-01
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| Series: | Korean Journal of Pediatrics |
| Online Access: | http://www.kjp.or.kr/upload/2010530308-20100453152953.PDF |
| _version_ | 1819229753450692608 |
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| author | Se Jung Oh Yong Hee Hong Yong Wha Lee Dong Hwan Lee |
| author_facet | Se Jung Oh Yong Hee Hong Yong Wha Lee Dong Hwan Lee |
| author_sort | Se Jung Oh |
| collection | DOAJ |
| description | Purpose : The neonatal screening test for homocystinuria primarily measures methionine by using a dried blood specimen. We investigated the incidence and clinical manifestations of homocystinuria, isolated hypermethioninemia, and transient hypermethioninemia among patients with hypermethioninemia on a neonatal screening test. Methods : We performed a retrospective study of 58 patients transferred to Shoonchunhyang Hospital because of hypermethioninemia on a neonatal screening test between January 1996 and August 2009. We analyzed the level of amino acid from plasma and urine, as well as blood homocysteine. Results : Almost half of the 58 patients were identified as normal. Whereas only 3 (5.1%) patients were identified as having homocystinuria, about 20.7% (12 cases) of the patients had isolated hypermethioninemia. The ages of these two groups at initial detection of hypermethioninemia on plasma amino acid analysis were 50.0¡?#?2.5; days and 34.9¡?#?3.5; days, respectively. Both groups were put on diets, and they showed a normal developmental course as a result of early diagnosis and treatment. Conclusion : Hypermethioninemia without homocystinuria, referred to as isolated hypermethioninemia, was also detected. Thus, the impact of hypermethioninemia on a neonatal screening test should be carefully evaluated through analysis of amino acid levels from blood and urine, and we need to detect and treat an early stage of isolated hypermethioninemia as well as homocystinuria. |
| first_indexed | 2024-12-23T11:18:11Z |
| format | Article |
| id | doaj.art-37c662d421ff472e8ffbbaf3f6a114b4 |
| institution | Directory Open Access Journal |
| issn | 1738-1061 2092-7258 |
| language | English |
| last_indexed | 2024-12-23T11:18:11Z |
| publishDate | 2010-03-01 |
| publisher | Korean Pediatric Society |
| record_format | Article |
| series | Korean Journal of Pediatrics |
| spelling | doaj.art-37c662d421ff472e8ffbbaf3f6a114b42022-12-21T17:49:09ZengKorean Pediatric SocietyKorean Journal of Pediatrics1738-10612092-72582010-03-0153332933410.3345/kjp.2010.53.3.329Spectrum of patients with hypermethioninemia based on neonatal screening tests over 14 yearsSe Jung OhYong Hee HongYong Wha LeeDong Hwan LeePurpose : The neonatal screening test for homocystinuria primarily measures methionine by using a dried blood specimen. We investigated the incidence and clinical manifestations of homocystinuria, isolated hypermethioninemia, and transient hypermethioninemia among patients with hypermethioninemia on a neonatal screening test. Methods : We performed a retrospective study of 58 patients transferred to Shoonchunhyang Hospital because of hypermethioninemia on a neonatal screening test between January 1996 and August 2009. We analyzed the level of amino acid from plasma and urine, as well as blood homocysteine. Results : Almost half of the 58 patients were identified as normal. Whereas only 3 (5.1%) patients were identified as having homocystinuria, about 20.7% (12 cases) of the patients had isolated hypermethioninemia. The ages of these two groups at initial detection of hypermethioninemia on plasma amino acid analysis were 50.0¡?#?2.5; days and 34.9¡?#?3.5; days, respectively. Both groups were put on diets, and they showed a normal developmental course as a result of early diagnosis and treatment. Conclusion : Hypermethioninemia without homocystinuria, referred to as isolated hypermethioninemia, was also detected. Thus, the impact of hypermethioninemia on a neonatal screening test should be carefully evaluated through analysis of amino acid levels from blood and urine, and we need to detect and treat an early stage of isolated hypermethioninemia as well as homocystinuria.http://www.kjp.or.kr/upload/2010530308-20100453152953.PDF |
| spellingShingle | Se Jung Oh Yong Hee Hong Yong Wha Lee Dong Hwan Lee Spectrum of patients with hypermethioninemia based on neonatal screening tests over 14 years Korean Journal of Pediatrics |
| title | Spectrum of patients with hypermethioninemia based on neonatal screening tests over 14 years |
| title_full | Spectrum of patients with hypermethioninemia based on neonatal screening tests over 14 years |
| title_fullStr | Spectrum of patients with hypermethioninemia based on neonatal screening tests over 14 years |
| title_full_unstemmed | Spectrum of patients with hypermethioninemia based on neonatal screening tests over 14 years |
| title_short | Spectrum of patients with hypermethioninemia based on neonatal screening tests over 14 years |
| title_sort | spectrum of patients with hypermethioninemia based on neonatal screening tests over 14 years |
| url | http://www.kjp.or.kr/upload/2010530308-20100453152953.PDF |
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