{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,27]],"date-time":"2026-01-27T08:12:17Z","timestamp":1769501537223,"version":"3.49.0"},"reference-count":17,"publisher":"Walter de Gruyter GmbH","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,1,28]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2019-0285_s_999_w2aab3b7c48b1b6b1aab1c16b1Aa\">\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Hypermethioninemia is a group of diseases with elevated plasma methionine (Met) caused by hereditary and non-hereditary factors, although it could also be caused by administration of the amino acid Met. Among these, the disease caused by methionine adenosyltransferase (MAT) I\/III deficiency is the most common, and is characterized by persistent, isolated hypermethioninemia as well as slightly elevated homocysteine. S-adenosylmethionine is the product of Met, which can be used as a direct methyl donor of many substances, such as choline and nucleotide, and essential in the development of the body. Among the patients, most have no symptoms, and a small number have central nervous system complications with high levels of plasma Met, including mental retardation, cognitive impairment and special breathing odor.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2019-0285_s_998_w2aab3b7c48b1b6b1aab1c16b2Aa\">\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>In this study, five cases of MAT I\/III deficiency were diagnosed and retrospectively analyzed among 220,000 newborns. Patients with high Met levels received a Met-restricted diet treatment. <\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2019-0285_s_997_w2aab3b7c48b1b6b1aab1c16b3Aa\">\n                  <jats:title>Results and conclusions<\/jats:title>\n                  <jats:p>MAT I\/III deficiency is a common reason for Met elevation in neonatal screening by tandem mass spectrometry (MS\/MS), which needs long-term follow-up except for these patients with explicitly benign mutations.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2019-0285","type":"journal-article","created":{"date-parts":[[2019,12,18]],"date-time":"2019-12-18T09:03:08Z","timestamp":1576659788000},"page":"47-52","source":"Crossref","is-referenced-by-count":10,"title":["Analysis of five cases of hypermethioninemia diagnosed by neonatal screening"],"prefix":"10.1515","volume":"33","author":[{"given":"Zhilei","family":"Zhang","sequence":"first","affiliation":[{"name":"Center of Genetic Medicine , The Affiliated Obstetrics and Gynecology Hospital with Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital , Nanjing , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanyun","family":"Wang","sequence":"additional","affiliation":[{"name":"Center of Genetic Medicine , The Affiliated Obstetrics and Gynecology Hospital with Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital , Nanjing , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dingyuan","family":"Ma","sequence":"additional","affiliation":[{"name":"Center of Genetic Medicine , The Affiliated Obstetrics and Gynecology Hospital with Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital , Nanjing , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei","family":"Cheng","sequence":"additional","affiliation":[{"name":"Center of Genetic Medicine , The Affiliated Obstetrics and Gynecology Hospital with Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital , Nanjing , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yun","family":"Sun","sequence":"additional","affiliation":[{"name":"Center of Genetic Medicine , The Affiliated Obstetrics and Gynecology Hospital with Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital , Nanjing , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tao","family":"Jiang","sequence":"additional","affiliation":[{"name":"Center of Genetic Medicine , The Affiliated Obstetrics and Gynecology Hospital with Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital , Nanjing , China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2019,12,19]]},"reference":[{"key":"2021021317253934329_j_jpem-2019-0285_ref_001_w2aab3b7c48b1b6b1ab2b2b1Aa","doi-asserted-by":"crossref","unstructured":"Kim YM, Kim JH, Choi J, Gu-Hwan K, Kim JM, et al. 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