{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,2]],"date-time":"2026-02-02T21:29:50Z","timestamp":1770067790413,"version":"3.49.0"},"reference-count":36,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2023,1,27]],"date-time":"2023-01-27T00:00:00Z","timestamp":1674777600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2023,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Maple syrup urine disease (MSUD) is an inborn error of metabolism caused by the insufficient catabolism of branched\u2010chain amino acids. <jats:italic>BCKDHA<\/jats:italic>, <jats:italic>BCKDHB<\/jats:italic>, <jats:italic>DBT<\/jats:italic>, and <jats:italic>DLD<\/jats:italic> encode the subunits of the branched\u2010chain \u03b1\u2010ketoacid dehydrogenase complex, which is responsible for the catabolism of these amino acids. Biallelic pathogenic variants in <jats:italic>BCKDHA<\/jats:italic>, <jats:italic>BCKDHB<\/jats:italic>, or <jats:italic>DBT<\/jats:italic> are characteristic of MSUD. In addition, a patient with a <jats:italic>PPM1K<\/jats:italic> defect was previously reported. <jats:italic>PPM1K<\/jats:italic> dephosphorylates and activates the enzyme complex. We report a patient with MSUD with mild findings and elevated BCAA levels carrying a novel homozygous start\u2010loss variant in <jats:italic>PPM1K<\/jats:italic>. Our study offers further evidence that <jats:italic>PPM1K<\/jats:italic> variants cause mild MSUD.<\/jats:p>","DOI":"10.1002\/ajmg.a.63129","type":"journal-article","created":{"date-parts":[[2023,1,27]],"date-time":"2023-01-27T19:14:36Z","timestamp":1674846876000},"page":"1360-1365","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["<i>PPM1K<\/i> defects cause mild maple syrup urine disease: The second case in the literature"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5537-7660","authenticated-orcid":false,"given":"Firat","family":"Ozcelik","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Erciyes University  Kayseri Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3873-3010","authenticated-orcid":false,"given":"Sezai","family":"Arslan","sequence":"additional","affiliation":[{"name":"Division of Nutrition and Metabolism, Department of Pediatrics Erciyes University  Kayseri Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9594-2241","authenticated-orcid":false,"given":"Busra","family":"Ozguc Caliskan","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Erciyes University  Kayseri Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2276-7611","authenticated-orcid":false,"given":"Fatih","family":"Kardas","sequence":"additional","affiliation":[{"name":"Division of Nutrition and Metabolism, Department of Pediatrics Erciyes University  Kayseri Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4212-5763","authenticated-orcid":false,"given":"Yusuf","family":"Ozkul","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Erciyes University  Kayseri Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0969-4611","authenticated-orcid":false,"given":"Munis","family":"Dundar","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Erciyes University  Kayseri Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,1,27]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/HUMU.23626"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/NMETH0410-248"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.21037\/ATM.2018.12.12"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/J.NEUINT.2022.105360"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.2147\/TACG.S125962"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/jn\/136.1.207s"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddu123"},{"key":"e_1_2_9_9_1","volume-title":"The online metabolic and molecular bases & inherited disease","author":"Chuang D. T.","year":"2019"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.5582\/IRDR.2022.01039"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2014.05.006"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.3945\/AJCN.117.156281"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.3390\/GENES13030397"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2016_537"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1080\/07853890.2021.1965204"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/J.PHARMTHERA.2020.107622"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2308-7"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/J.CELREP.2018.03.140"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI38151"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.3390\/GENES13020233\/S1"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.3233\/trd-160009"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/J.GIM.2022.04.006"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1093\/JN\/135.6.1565S"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1093\/NAR\/GKG509"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22242"},{"key":"e_1_2_9_26_1","volume-title":"GeneReviews\u00ae","author":"Quinonez S. C.","year":"1993"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF03047366"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/NMETH.2890"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.phrs.2018.05.014"},{"key":"e_1_2_9_31_1","unstructured":"Smith R. J. &Jones M.\u2010K. N.(2016).Nonsyndromic Hearing Loss and Deafness DFNB1. GeneReviews\u00ae [Internet].https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1272\/"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11064-017-2261-5"},{"key":"e_1_2_9_33_1","unstructured":"Strauss K. A. Puffenberger E. G. &Carson V. J.(2020).Maple syrup urine disease. Gene Reviews.https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1319\/"},{"key":"e_1_2_9_34_1","doi-asserted-by":"publisher","DOI":"10.1007\/S00246-010-9856-9"},{"key":"e_1_2_9_35_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms21207490"},{"key":"e_1_2_9_36_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.112.000586"},{"key":"e_1_2_9_37_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M112.351031"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63129","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.63129","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63129","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,12]],"date-time":"2023-10-12T03:41:10Z","timestamp":1697082070000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63129"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,1,27]]},"references-count":36,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2023,5]]}},"alternative-id":["10.1002\/ajmg.a.63129"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63129","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,1,27]]},"assertion":[{"value":"2022-10-09","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-01-13","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-01-27","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}