{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,22]],"date-time":"2026-01-22T19:17:53Z","timestamp":1769109473966,"version":"3.49.0"},"reference-count":31,"publisher":"Wiley","issue":"S3","license":[{"start":{"date-parts":[[2010,1,8]],"date-time":"2010-01-08T00:00:00Z","timestamp":1262908800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2010,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Glycogen storage disease type IV (GSD IV; Andersen disease) is caused by a deficiency of glycogen branching enzyme (GBE), leading to excessive deposition of structurally abnormal, amylopectin\u2010like glycogen in affected tissues. The accumulated glycogen lacks multiple branch points and thus has longer outer branches and poor solubility, causing irreversible tissue and organ damage. Although classic GSD IV presents with early onset of hepatosplenomegaly with progressive liver cirrhosis, GSD IV exhibits extensive clinical heterogeneity with respect to age at onset and variability in pattern and extent of organ and tissue involvement. With the advent of cloning and determination of the genomic structure of the human GBE gene (<jats:italic>GBE1<\/jats:italic>), molecular analysis and characterization of underlying disease\u2010causing mutations is now possible. A variety of disease\u2010causing mutations have been identified in the <jats:italic>GBE1<\/jats:italic> gene in GSD IV patients, many of whom presented with diverse clinical phenotypes. Detailed biochemical and genetic analyses of three unrelated patients suspected to have GSD IV are presented here. Two novel missense mutations (p.Met495Thr and p.Pro552Leu) and a novel 1\u2010bp deletion mutation (c.1999delA) were identified. A variety of mutations in <jats:italic>GBE1<\/jats:italic> have been previously reported, including missense and nonsense mutations, nucleotide deletions and insertions, and donor and acceptor splice\u2010site mutations. Mutation analysis is useful in confirming the diagnosis of GSD IV\u2014especially when higher residual GBE enzyme activity levels are seen and enzyme analysis is not definitive\u2014and allows for further determination of potential genotype\/phenotype correlations in this disease.<\/jats:p>","DOI":"10.1007\/s10545-009-9026-5","type":"journal-article","created":{"date-parts":[[2010,1,7]],"date-time":"2010-01-07T08:05:38Z","timestamp":1262851538000},"page":"83-90","source":"Crossref","is-referenced-by-count":35,"title":["Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder"],"prefix":"10.1002","volume":"33","author":[{"given":"Sing\u2010Chung","family":"Li","sequence":"first","affiliation":[{"name":"School of Nutrition and Health Science Taipei Medical University Taipei Taiwan"},{"name":"Department of Food Science, Nutrition and Nutraceutical Biotechnology Shih Chien University Taipei Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chiao\u2010Ming","family":"Chen","sequence":"additional","affiliation":[{"name":"School of Nutrition and Health Science Taipei Medical University Taipei Taiwan"},{"name":"Department of Food Science, Nutrition and Nutraceutical Biotechnology Shih Chien University Taipei Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer L.","family":"Goldstein","sequence":"additional","affiliation":[{"name":"Pediatrics, Biochemical Genetics Laboratory Duke University Medical Center 801 Capitola Drive, Suite 6 Durham NC 27713 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jer\u2010Yuarn","family":"Wu","sequence":"additional","affiliation":[{"name":"Institute of Biomedical Science Academia Sinica Taipei Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emmanuelle","family":"Lemyre","sequence":"additional","affiliation":[{"name":"Saint\u2010Justine Hospital Montreal Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas Andrew","family":"Burrow","sequence":"additional","affiliation":[{"name":"Cincinnati Children's Hospital Medical Center Cincinnati OH USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter B.","family":"Kang","sequence":"additional","affiliation":[{"name":"Children\u2032s Hospital Boston and Harvard Medical School Boston MA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuan\u2010Tsong","family":"Chen","sequence":"additional","affiliation":[{"name":"Institute of Biomedical Science Academia Sinica Taipei Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deeksha S.","family":"Bali","sequence":"additional","affiliation":[{"name":"Pediatrics, Biochemical Genetics Laboratory Duke University Medical Center 801 Capitola Drive, Suite 6 Durham NC 27713 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