{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T14:55:23Z","timestamp":1753887323758,"version":"3.41.2"},"reference-count":10,"publisher":"Walter de Gruyter GmbH","issue":"0","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"Abstract<\/jats:title>\n \n Objectives<\/jats:title>\n Glycogen storage diseases (GSDs) are heterogeneous disorders caused by various enzyme deficiencies. GSD type IX \u03b12, the most common subtype of GSD IX, is due to a deficiency of hepatic phosphorylase kinase. Herein we will report a novel mutation in this disease with an unusual presentation.<\/jats:p>\n <\/jats:sec>\n \n Case presentation<\/jats:title>\n we describe a 3-year-old boy who suffered from hepatomegaly, fatty liver disease, and liver cirrhosis. The cause of cirrhosis at a young age was unknown based on the laboratory data and liver biopsy, so we performed a targeted-gene sequencing (TGS) covering 450 genes involved in inborn metabolic diseases consisting of glycogen storage disorders genes with hepatic involvement. He was found out to have a rare novel pathogenic variant in the PHKA2<\/jats:italic> gene.<\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n This novel variant c.2226+2T\u00a0>\u00a0C expands the mutational spectrum of the PHKA2<\/jats:italic> gene. Also, severe liver damage (cirrhosis) in patients with GSD- IX \u03b12 has rarely been reported, which needs further discussion. We hypothesize that unidentified PHKA2 variants may be a rare cause of childhood liver cirrhosis.<\/jats:p>\n <\/jats:sec>","DOI":"10.1515\/jpem-2021-0385","type":"journal-article","created":{"date-parts":[[2021,11,3]],"date-time":"2021-11-03T02:41:51Z","timestamp":1635907311000},"source":"Crossref","is-referenced-by-count":0,"title":["Identification of a novel mutation in the PHKA2 gene in a child with liver cirrhosis"],"prefix":"10.1515","volume":"0","author":[{"given":"Zahra","family":"Beyzaei","sequence":"first","affiliation":[{"name":"Shiraz Transplant Research Center (STRC) , Shiraz University of Medical Sciences , Shiraz , Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fatih","family":"Ezgu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolism and Genetics , Gazi University Faculty of Medicine , Ankara , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammad Hadi","family":"Imanieh","sequence":"additional","affiliation":[{"name":"Gastroenterology and Hepatology Research Center , Shiraz University of Medical Sciences , Shiraz , Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bita","family":"Geramizadeh","sequence":"additional","affiliation":[{"name":"Shiraz Transplant Research Center (STRC) , Shiraz University of Medical Sciences , Shiraz , Iran"},{"name":"Department of Pathology , Shiraz University of Medical Sciences , Shiraz , Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2021,11,2]]},"reference":[{"key":"2021110312505076676_j_jpem-2021-0385_ref_001_w2aab3b7ab1b6b1ab2b1b1Aa","doi-asserted-by":"crossref","unstructured":"Tsilianidis, LA, Fiske, LM, Siegel, S, Lumpkin, C, Hoyt, K, Wasserstein, M, et al.. Aggressive therapy improves cirrhosis in glycogen storage disease type IX. Mol Genet Metabol 2013;109:179\u201382. https:\/\/doi.org\/10.1016\/j.ymgme.2013.03.009.","DOI":"10.1016\/j.ymgme.2013.03.009"},{"key":"2021110312505076676_j_jpem-2021-0385_ref_002_w2aab3b7ab1b6b1ab2b1b2Aa","doi-asserted-by":"crossref","unstructured":"Bali, DS, Goldstein, JL, Fredrickson, K, Austin, S, Pendyal, S, Rehder, C, et al.. Clinical and molecular variability in patients with PHKA2 variants and liver phosphorylase b kinase deficiency. J Inherit Metab Dis 2017;37:63\u201372. https:\/\/doi.org\/10.1007\/8904_2017_8.","DOI":"10.1007\/8904_2017_8"},{"key":"2021110312505076676_j_jpem-2021-0385_ref_003_w2aab3b7ab1b6b1ab2b1b3Aa","unstructured":"Herbert, M, Goldstein, JL, Rehder, C, Austin, S, Kishnani, PS, Bali, DS. Phosphorylase kinase deficiency. In: Adam, MP, Ardinger, HH, Pagon, RA, Wallace, SE, Bean, LJH, Mirzaa, G, et al., editors. GeneReviews. Seattle, WA: University of Washington; 2011:1993\u20132021 pp."},{"key":"2021110312505076676_j_jpem-2021-0385_ref_004_w2aab3b7ab1b6b1ab2b1b4Aa","doi-asserted-by":"crossref","unstructured":"Nguyena, NL, Ngocc, CTB, Vuc, CD, Tunga, NV, Nguyen, HH. A novel frameshift PHKA2 mutation in a family with glycogen storage disease type IXa: a first report in Vietnam and review of literature. Clin Chim Acta 2020;508:9\u201315. https:\/\/doi.org\/10.1016\/j.cca.2020.05.010.","DOI":"10.1016\/j.cca.2020.05.010"},{"key":"2021110312505076676_j_jpem-2021-0385_ref_005_w2aab3b7ab1b6b1ab2b1b5Aa","doi-asserted-by":"crossref","unstructured":"Richards, S, Aziz, N, Bale, S, Bick, D. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology. Genet Med 2015;17:405\u201323. https:\/\/doi.org\/10.1038\/gim.2015.30.","DOI":"10.1038\/gim.2015.30"},{"key":"2021110312505076676_j_jpem-2021-0385_ref_006_w2aab3b7ab1b6b1ab2b1b6Aa","doi-asserted-by":"crossref","unstructured":"Den Dunnen, JT, Antonarakis, SE. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 2000;15:7\u201312. https:\/\/doi.org\/10.1002\/(sici)1098-1004(200001)15:1<7::aid-humu4>3.0.co;2-n.","DOI":"10.1002\/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N"},{"key":"2021110312505076676_j_jpem-2021-0385_ref_007_w2aab3b7ab1b6b1ab2b1b7Aa","doi-asserted-by":"crossref","unstructured":"Kishnani, PS, Goldstein, J, Austin, SL, Arn, P, Bachrach, B, Bali, DS, et al.. Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med 2019;21:772\u201389. https:\/\/doi.org\/10.1038\/s41436-018-0364-2.","DOI":"10.1038\/s41436-018-0364-2"},{"key":"2021110312505076676_j_jpem-2021-0385_ref_008_w2aab3b7ab1b6b1ab2b1b8Aa","doi-asserted-by":"crossref","unstructured":"Roscher, A, Hewson, S, Nagy, L. The natural history of glycogen storage disease types VI and IX: long-term outcome from the largest metabolic center in Canada. Mol Genet Metabol 2014;113:171\u20136. https:\/\/doi.org\/10.1016\/j.ymgme.2014.09.005.","DOI":"10.1016\/j.ymgme.2014.09.005"},{"key":"2021110312505076676_j_jpem-2021-0385_ref_009_w2aab3b7ab1b6b1ab2b1b9Aa","doi-asserted-by":"crossref","unstructured":"Fernandes, SA, Cooper, GE, Gibson, RA, Kishnani, PS. Benign or not benign? Deep phenotyping of liver glycogen storage disease IX. Mol Genet Metabol 2020;131:299\u2013305. https:\/\/doi.org\/10.1016\/j.ymgme.2020.10.004.","DOI":"10.1016\/j.ymgme.2020.10.004"},{"key":"2021110312505076676_j_jpem-2021-0385_ref_010_w2aab3b7ab1b6b1ab2b1c10Aa","doi-asserted-by":"crossref","unstructured":"Beyzaei, Z, Geramizadeh, B, Karimzadeh, S. Diagnosis of hepatic Glycogen storage disease patients with overlapping clinical symptoms by massively parallel sequencing: a systematic review of literature. 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