{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T13:40:23Z","timestamp":1790430023386,"version":"4.1.0"},"reference-count":27,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2017,4,10]],"date-time":"2017-04-10T00:00:00Z","timestamp":1491782400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2017,4,10]],"date-time":"2017-04-10T00:00:00Z","timestamp":1491782400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Junior Scientific Masterclass, Graduate School GUIDE, University Medical Center Groningen, University of Groningen, the Netherlands"},{"name":"Dr. Philip Lee Scholarship, through the Glycogen Storage Disease Program, Department of Pediatrics, University of Florida"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2017,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>To study heterogeneity between patients with glycogen storage disease type Ia (GSD Ia), a rare inherited disorder of carbohydrate metabolism caused by the deficiency of glucose\u20106\u2010phosphatase (G6Pase).<\/jats:p><\/jats:sec><jats:sec><jats:title>Study design<\/jats:title><jats:p>Descriptive retrospective study of longitudinal clinical and biochemical data and long\u2010term complications in 20 GSD Ia patients. We included 11 patients with homozygous <jats:italic>G6PC<\/jats:italic> mutations and siblings from four families carrying identical <jats:italic>G6PC<\/jats:italic> genotypes. To display subtle variations for repeated triglyceride measurements with respect to time for individual patients, CUSUM\u2010analysis graphs were constructed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Patients with different homozygous <jats:italic>G6PC<\/jats:italic> mutations showed important differences in height, BMI, and biochemical parameters (i.e., lactate, uric acid, triglyceride, and cholesterol concentrations). Furthermore, CUSUM\u2010analysis predicts and displays subtle changes in longitudinal blood triglyceride concentrations. Siblings in families also displayed important differences in biochemical parameters (i.e., lactate, uric acid, triglycerides, and cholesterol concentrations) and long\u2010term complications (i.e., liver adenomas, nephropathy, and osteopenia\/osteoporosis).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Differences between GSD Ia patients reflect large clinical and biochemical heterogeneity. Heterogeneity between GSD Ia patients with homozygous <jats:italic>G6PC<\/jats:italic> mutations indicate an important role of the <jats:italic>G6PC<\/jats:italic> genotype\/mutations. Differences between affected siblings suggest an additional role (genetic and\/or environmental) of modifying factors defining the GSD Ia phenotype. CUSUM\u2010analysis can facilitate single\u2010patient monitoring of metabolic control and future application of this method may improve precision medicine for patients both with GSD and remaining inherited metabolic diseases.<\/jats:p><\/jats:sec>","DOI":"10.1007\/s10545-017-0039-1","type":"journal-article","created":{"date-parts":[[2017,4,10]],"date-time":"2017-04-10T12:57:01Z","timestamp":1491829021000},"page":"695-702","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":26,"title":["Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic control"],"prefix":"10.1002","volume":"40","author":[{"given":"Fabian","family":"Peeks","sequence":"first","affiliation":[{"name":"Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen University of Groningen PO Box 30 001 Groningen 9700 RB The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas A. 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