{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T05:25:14Z","timestamp":1780637114193,"version":"3.54.1"},"reference-count":19,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2022,6,4]],"date-time":"2022-06-04T00:00:00Z","timestamp":1654300800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100006108","name":"National Center for Advancing Translational Sciences","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006108","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["1U54NS115198\u201001"],"award-info":[{"award-number":["1U54NS115198\u201001"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Achalasia is rare in the pediatric population and should prompt clinicians to consider genetic disorders associated with this condition. While AAA syndrome (also known as Allgrove or Triple A syndrome) is commonly considered, <jats:italic>GMPPA<\/jats:italic>\u2010congenital disorder of glycosylation (CDG) should also be in the differential diagnosis. We report a 9\u2010month\u2010old female born to nonconsanguineous parents with achalasia and alacrima found to have two novel compound heterozygous variants in the <jats:italic>GMPPA<\/jats:italic> gene associated with <jats:italic>GMPPA<\/jats:italic>\u2010CDG. This rare disorder is commonly associated with developmental delay and intellectual disability. We discuss management of this disorder including the importance of confirming a genetic diagnosis and summarize reported cases.<\/jats:p>","DOI":"10.1002\/ajmg.a.62859","type":"journal-article","created":{"date-parts":[[2022,6,4]],"date-time":"2022-06-04T08:31:51Z","timestamp":1654331511000},"page":"2438-2442","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["A rare cause of infantile achalasia: <scp><i>GMPPA<\/i>\u2010congenital<\/scp> disorder of glycosylation with two novel compound heterozygous variants"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0421-0385","authenticated-orcid":false,"given":"Irina","family":"Geiculescu","sequence":"first","affiliation":[{"name":"Department of Pediatrics Levine Children's Hospital  Charlotte North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jason","family":"Dranove","sequence":"additional","affiliation":[{"name":"Division of Pediatric Gastroenterology, Hepatology, and Nutrition Levine Children's Hospital  Charlotte North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Graham","family":"Cosper","sequence":"additional","affiliation":[{"name":"Pediatric Surgical Associates, Levine Children's Hospital  Charlotte North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew C.","family":"Edmondson","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Department of Pediatrics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Morava\u2010Kozicz","sequence":"additional","affiliation":[{"name":"Department of Clinical Genomics Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lauren B.","family":"Carter","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Medical Genetics Levine Children's Hospital, Atrium Health  Charlotte North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,6,4]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13173"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12872"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1159\/000485908"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.5915\/44-1-9260"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61476"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.4253\/wjge.v6.i4.105"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1172\/jci139076"},{"key":"e_1_2_10_9_1","unstructured":"GMPPA Gene \u2010 GDP\u2010Mannose Pyrophosphorylase A. (2022).Gene Cards: The Human Gene Database.https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=GMPPA"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38292"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gie.2019.04.231"},{"issue":"10","key":"e_1_2_10_12_1","first-page":"466","article-title":"Surgical correction of achalasia of the esophagus in infants","volume":"42","author":"King R.","year":"1953","journal-title":"Journal of the Medical Association of Georgia"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.08.002"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-5223(19)39631-X"},{"issue":"7","key":"e_1_2_10_15_1","first-page":"411","article-title":"An overview of achalasia and its subtypes","volume":"13","author":"Patel D. A.","year":"2017","journal-title":"Gastroenterology & hepatology"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2014.06.021"},{"key":"e_1_2_10_17_1","unstructured":"Triple A syndrome|Genetic and Rare Diseases Information Center (GARD)\u2013an NCATS Program. (2015).GARD: Genetic and Rare Diseases Information Center.https:\/\/rarediseases.info.nih.gov\/diseases\/457\/triple-a-syndrome"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1097\/mpg.0000000000002221"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpedsurg.2020.02.028"},{"key":"e_1_2_10_20_1","doi-asserted-by":"crossref","unstructured":"Zheng L. Liu Z. Wang Y. Yang F. Wang J. Qing J. Cai X. Mo X. Gao N. &Jia D.(2021).Cryo\u2010EM structures of human GMPPA\/GMPPB complex bound to GDP\u2010mannose.https:\/\/doi.org\/10.2210\/pdb7d72\/pdb","DOI":"10.2210\/pdb7d72\/pdb"}],"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.62859","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.62859","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62859","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,24]],"date-time":"2023-08-24T06:16:42Z","timestamp":1692857802000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.62859"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,6,4]]},"references-count":19,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2022,8]]}},"alternative-id":["10.1002\/ajmg.a.62859"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.62859","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,6,4]]},"assertion":[{"value":"2022-02-03","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-05-13","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-06-04","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}