{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,6]],"date-time":"2026-05-06T19:56:10Z","timestamp":1778097370653,"version":"3.51.4"},"reference-count":14,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2022,5,12]],"date-time":"2022-05-12T00:00:00Z","timestamp":1652313600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2022,5,12]],"date-time":"2022-05-12T00:00:00Z","timestamp":1652313600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100001809","name":"national natural science foundation of china","doi-asserted-by":"publisher","award":["81802125 and 81700755"],"award-info":[{"award-number":["81802125 and 81700755"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Guangzhou Science and technology planning project","award":["201804010283"],"award-info":[{"award-number":["201804010283"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Pediatr"],"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Pathogenic mutations in the <jats:italic>PHKG2<\/jats:italic> are associated with a very rare disease\u2014glycogen storage disease IXc (GSD-IXc)\u2014and are characterized by severe liver disease.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>Here, we report a patient with jaundice, hypoglycaemia, growth retardation, progressive increase in liver transaminase and prominent hepatomegaly from the neonatal period. Genetic testing revealed two novel, previously unreported <jats:italic>PHKG2<\/jats:italic> mutations (F233S and R320DfsX5). Functional experiments indicated that both F223S and R320DfsX5 lead to a decrease in key phosphorylase b kinase enzyme activity. With raw cornstarch therapy, hypoglycaemia and lactic acidosis were ameliorated and serum aminotransferases decreased.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>These findings expand the gene spectrum and contribute to the interpretation of clinical presentations of these two novel <jats:italic>PHKG2<\/jats:italic> mutations.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12887-021-03055-7","type":"journal-article","created":{"date-parts":[[2022,5,12]],"date-time":"2022-05-12T06:03:01Z","timestamp":1652335381000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["A very rare case report of glycogen storage disease type IXc with novel PHKG2 variants"],"prefix":"10.1186","volume":"22","author":[{"given":"Yongxian","family":"Shao","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Taolin","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Minyan","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jianan","family":"Xu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yonglan","family":"Huang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiuzhen","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruidan","family":"Zheng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9107-2314","authenticated-orcid":false,"given":"Li","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2022,5,12]]},"reference":[{"key":"3055_CR1","unstructured":"Herbert M, Goldstein JL, Rehder C, Austin S, Kishnani PS, Bali DS. Phosphorylase Kinase Deficiency. [updated 2018 Nov 1]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews\u00ae [Internet]. Seattle (WA):\u00a0University of Washington, Seattle; 2011. p. 1993\u20132022."},{"issue":"1","key":"3055_CR2","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/s12881-016-0295-1","volume":"17","author":"R Choi","year":"2016","unstructured":"Choi R, Park H-D, Kang B, Choi SY, Ki C-S, Lee S-Y, et al. PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: Prevalence of deletion mutations. BMC Med Genet. 2016;17(1):1\u20139.","journal-title":"BMC Med Genet"},{"issue":"4","key":"3055_CR3","doi-asserted-by":"publisher","first-page":"772","DOI":"10.1038\/s41436-018-0364-2","volume":"21","author":"PS Kishnani","year":"2019","unstructured":"Kishnani PS, Goldstein J, Austin SL, 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(4):772\u201389.","journal-title":"Genet Med."},{"key":"3055_CR4","doi-asserted-by":"publisher","first-page":"179","DOI":"10.1016\/j.ymgme.2013.03.009","volume":"109","author":"LA Tsilianidis","year":"2013","unstructured":"Tsilianidis LA, Fiske LM, Siegel S, et al. Aggressive therapy improves cirrhosis in glycogen storage disease type IX. Mol Genet Metab. 2013;109:179\u201382.","journal-title":"Mol Genet Metab"},{"issue":"3","key":"3055_CR5","doi-asserted-by":"publisher","first-page":"331","DOI":"10.1515\/jpem-2017-0170","volume":"31","author":"C Li","year":"2018","unstructured":"Li C, Huang L, Tian L, et al. PHKG2 mutation spectrum in glycogen storage disease type IXc: a case report and review of the literature. J Pediatr Endocrinol Metab. 2018;31(3):331\u20138.","journal-title":"J Pediatr Endocrinol Metab"},{"issue":"9","key":"3055_CR6","doi-asserted-by":"publisher","first-page":"1117","DOI":"10.1515\/jpem-2019-0603","volume":"33","author":"N Waheed","year":"2020","unstructured":"Waheed N, Saeed A, Ijaz S, Fayyaz Z, Anjum MN, Zahoor Y, et al. Variability of clinical and biochemical phenotype in liver phosphorylase kinase deficiency with variants in the phosphorylase kinase (PHKG2) gene. J Pediatr Endocrinol Metab. 2020;33(9):1117\u201323.","journal-title":"J Pediatr Endocrinol Metab"},{"issue":"5","key":"3055_CR7","doi-asserted-by":"publisher","first-page":"647","DOI":"10.1007\/s00431-013-2223-0","volume":"173","author":"B Albash","year":"2014","unstructured":"Albash B, Imtiaz F, Al-Zaidan H, et al. Novel PHKG2 mutation causing GSD IX with prominent liver disease: report of three cases and review of literature. Eur J Pediatr. 2014;173(5):647\u201353.","journal-title":"Eur J Pediatr"},{"issue":"3","key":"3055_CR8","doi-asserted-by":"publisher","first-page":"171","DOI":"10.1016\/j.ymgme.2014.09.005","volume":"113","author":"A Roscher","year":"2014","unstructured":"Roscher A, Patel J, Hewson S, et al. The natural history of glycogen storage disease types VI and IX: long-term outcome from the largest metabolic center in Canada. Mol Genet Metab. 2014;113(3):171\u20136.","journal-title":"Mol Genet Metab"},{"key":"3055_CR9","doi-asserted-by":"publisher","first-page":"309","DOI":"10.1016\/j.ymgme.2013.12.008","volume":"111","author":"DS Bali","year":"2014","unstructured":"Bali DS, Goldstein JL, Fredrickson K, et al. Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene. Mol Genet Metab. 2014;111:309\u201313.","journal-title":"Mol Genet Metab"},{"issue":"10","key":"3055_CR10","doi-asserted-by":"publisher","first-page":"e1444","DOI":"10.1002\/mgg3.1444","volume":"8","author":"Y Liang","year":"2020","unstructured":"Liang Y, Du C, Wei H, Zhang C, Zhang M, Hu M, et al. Genotypic and clinical analysis of 49 Chinese children with hepatic glycogen storage diseases. Mol Genet Genomic Med. 2020;8(10):e1444.","journal-title":"Mol Genet Genomic Med"},{"key":"3055_CR11","doi-asserted-by":"publisher","first-page":"429","DOI":"10.1016\/j.bbapap.2009.10.013","volume":"1804","author":"J Eswaran","year":"2010","unstructured":"Eswaran J, Knapp S. Insights into protein kinase regulation and inhibition by large scale structural comparison. Biochim Biophys Acta. 2010;1804:429\u201332.","journal-title":"Biochim Biophys Acta"},{"key":"3055_CR12","doi-asserted-by":"publisher","first-page":"137","DOI":"10.1016\/j.ymgme.2011.05.010","volume":"104","author":"A Davit-Spraul","year":"2011","unstructured":"Davit-Spraul A, Piraud M, Dobbelaere D, et al. Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to noninvasive blood enzymatic and molecular studies. Mol Genet Metab. 2011;104:137\u201343.","journal-title":"Mol Genet Metab"},{"issue":"2","key":"3055_CR13","doi-asserted-by":"publisher","first-page":"106","DOI":"10.1038\/gim.2012.104","volume":"15","author":"J Wang","year":"2013","unstructured":"Wang J, Cui H, Lee NC, Hwu WL, Chien YH, Craigen WJ, et al. Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin. 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Mol Genet Metab. 2021;133(3):269\u201376.","journal-title":"Mol Genet Metab"}],"container-title":["BMC Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12887-021-03055-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12887-021-03055-7\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12887-021-03055-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,5,12]],"date-time":"2022-05-12T06:04:17Z","timestamp":1652335457000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcpediatr.biomedcentral.com\/articles\/10.1186\/s12887-021-03055-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,5,12]]},"references-count":14,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2022,12]]}},"alternative-id":["3055"],"URL":"https:\/\/doi.org\/10.1186\/s12887-021-03055-7","relation":{},"ISSN":["1471-2431"],"issn-type":[{"value":"1471-2431","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,5,12]]},"assertion":[{"value":"17 June 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"5 December 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"12 May 2022","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This study was approved by the ethics committee of Guangzhou Women and Children\u2019s Medical Center. Written informed consent was obtained from the proband\u2019s parents with the agreement to share the clinical and genetic information for research analysis.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent was obtained from the proband\u2019s parents for the publication of the proband\u2019s clinical and genetic information included in this manuscript. Written consent is available for review; please contact the corresponding author if necessary.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"All authors declare that this manuscript has no conflicts of interest.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"267"}}