{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T05:05:22Z","timestamp":1792731922268,"version":"4.5.0"},"reference-count":52,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2014,10,7]],"date-time":"2014-10-07T00:00:00Z","timestamp":1412640000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000071","name":"National Institute of Child Health and Human Development","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000071","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2015,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Disorders of the glucose\u20106\u2010phosphatase (G6Pase)\/glucose\u20106\u2010phosphate transporter (G6PT) complexes consist of three subtypes: glycogen storage disease type Ia (GSD\u2010Ia), deficient in the liver\/kidney\/intestine\u2010restricted G6Pase\u2010\u03b1 (or G6PC); GSD\u2010Ib, deficient in a ubiquitously expressed G6PT (or SLC37A4); and G6Pase\u2010\u03b2 deficiency or severe congenital neutropenia syndrome type 4 (SCN4), deficient in the ubiquitously expressed G6Pase\u2010\u03b2 (or G6PC3). G6Pase\u2010\u03b1 and G6Pase\u2010\u03b2 are glucose\u20106\u2010phosphate (G6P) hydrolases with active sites lying inside the endoplasmic reticulum (ER) lumen and as such are dependent upon the G6PT to translocate G6P from the cytoplasm into the lumen. The tissue expression profiles of the G6Pase enzymes dictate the disease's phenotype. A functional G6Pase\u2010\u03b1\/G6PT complex maintains interprandial glucose homeostasis, while a functional G6Pase\u2010\u03b2\/G6PT complex maintains neutrophil\/macrophage energy homeostasis and functionality. G6Pase\u2010\u03b2 deficiency is not a glycogen storage disease but biochemically it is a GSD\u2010I related syndrome (GSD\u2010Irs). GSD\u2010Ia and GSD\u2010Ib patients manifest a common metabolic phenotype of impaired blood glucose homeostasis not shared by GSD\u2010Irs. GSD\u2010Ib and GSD\u2010Irs patients manifest a common myeloid phenotype of neutropenia and neutrophil\/macrophage dysfunction not shared by GSD\u2010Ia. While a disruption of the activity of the G6Pase\u2010\u03b1\/G6PT complex readily explains why GSD\u2010Ia and GSD\u2010Ib patients exhibit impaired glucose homeostasis, the basis for neutropenia and myeloid dysfunction in GSD\u2010Ib and GSD\u2010Irs are only now starting to be understood. Animal models of all three disorders are now available and are being exploited to both delineate the disease more precisely and develop new treatment approaches, including gene therapy.<\/jats:p>","DOI":"10.1007\/s10545-014-9772-x","type":"journal-article","created":{"date-parts":[[2014,10,6]],"date-time":"2014-10-06T06:01:07Z","timestamp":1412575267000},"page":"511-519","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":132,"title":["Type I glycogen storage diseases: disorders of the glucose\u20106\u2010phosphatase\/glucose\u20106\u2010phosphate transporter complexes"],"prefix":"10.1002","volume":"38","author":[{"given":"Janice Y.","family":"Chou","sequence":"first","affiliation":[{"name":"Section on Cellular Differentiation, Program on Developmental Endocrinology and Genetics Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health Bethesda MD 20892 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