{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,19]],"date-time":"2026-02-19T02:55:59Z","timestamp":1771469759570,"version":"3.50.1"},"reference-count":5,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2022,6,11]],"date-time":"2022-06-11T00:00:00Z","timestamp":1654905600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100002858","name":"China Postdoctoral Science Foundation","doi-asserted-by":"publisher","award":["2020\u2009M683318"],"award-info":[{"award-number":["2020\u2009M683318"]}],"id":[{"id":"10.13039\/501100002858","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100012542","name":"Sichuan Province Science and Technology Support Program","doi-asserted-by":"publisher","award":["2020YFS0197"],"award-info":[{"award-number":["2020YFS0197"]}],"id":[{"id":"10.13039\/100012542","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100012542","name":"Sichuan Province Science and Technology Support Program","doi-asserted-by":"publisher","award":["2020YJ0059"],"award-info":[{"award-number":["2020YJ0059"]}],"id":[{"id":"10.13039\/100012542","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2022,11]]},"abstract":"Abstract<\/jats:title>Methylmalonic acidemia (MMA) is an autosomal recessive genetic disorder caused by decreased activity of methylmalonyl\u2010CoA mutase or metabolic disturbance of its coenzyme cobalamin, cutaneous manifestations are rare clinical signs in this disease. Herein, we describe a Chinese boy with MMA fed with a formula lacking branched\u2010chain amino acids presenting with erythroderma and acrodermatitis enteropathica\u2010like rash, a homozygous nonsense mutation c.742C>T (p.Gln248*) was identified in the MMAA<\/jats:italic> gene. The pedigree exhibited a non\u2010Mendelian inheritance pattern which was attributed to maternal uniparental disomy on chromosome 4q26\u2010q34.1 of the proband, confirmed by chromosomal microarray analysis. Our case highlights the association between skin changes and nutritional deficiency due to therapeutic amino acid restrictions in MMA.<\/jats:p>","DOI":"10.1111\/pde.15051","type":"journal-article","created":{"date-parts":[[2022,6,11]],"date-time":"2022-06-11T09:04:15Z","timestamp":1654938255000},"page":"987-989","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Secondary acrodermatitis enteropathica\u2010like skin findings in a case of methylmalonic acidemia"],"prefix":"10.1111","volume":"39","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2662-743X","authenticated-orcid":false,"given":"Yusha","family":"Chen","sequence":"first","affiliation":[{"name":"Department of Dermatology, West China Hospital Sichuan University Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhongtao","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Dermatology, West China Hospital Sichuan University Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chuangwen","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics West China Second University Hospital, Sichuan University Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sheng","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Dermatology, West China Hospital Sichuan University Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,6,11]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.1994.tb08463.x"},{"key":"e_1_2_6_3_1","first-page":"741","article-title":"Skin manifestation of methylmalonic acidemia: case report and review of the literature","volume":"150","author":"Karamifar H","year":"2015","journal-title":"Giorn Ital Dermat V"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1080\/09168451.2017.1386084"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10695-020-00826-4"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1063"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.15051","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/pde.15051","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.15051","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,21]],"date-time":"2023-08-21T07:29:48Z","timestamp":1692602988000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.15051"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,6,11]]},"references-count":5,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2022,11]]}},"alternative-id":["10.1111\/pde.15051"],"URL":"https:\/\/doi.org\/10.1111\/pde.15051","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"value":"0736-8046","type":"print"},{"value":"1525-1470","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,6,11]]},"assertion":[{"value":"2022-01-19","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-05-15","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-06-11","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}