{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,7]],"date-time":"2026-11-07T14:38:14Z","timestamp":1794062294553,"version":"4.8.0"},"reference-count":0,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2007,8,20]],"date-time":"2007-08-20T00:00:00Z","timestamp":1187568000000},"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":[[2007,10]]},"abstract":"<jats:title>Summary<\/jats:title>\n                  <jats:p>Fructose\u20101,6\u2010bisphosphatase (FBPase) deficiency (OMIM 229700) has been characterized as the cause of life\u2010threatening hypoglycaemia and lactic acidaemia following prolonged fasting. The patient, an adult African\u2010American woman, presented during the second trimester of her first pregnancy with recurrent episodes of lactic acidaemia and hypoglycaemia. She had recently been admitted to a nearby intensive care unit after presentation with profound hypoglycaemia and lactic acidosis, and was found to be pregnant. The history was remarkable for approximately 30 hospitalizations for hypoglycaemia and acidosis. She had previously undergone liver biopsy at another centre and was diagnosed with a \u2018glycogen storage disease\u2019 although no enzyme testing had been done for confirmation. Based on clinical symptoms, a diagnosis of FBPase deficiency was accomplished through gene sequencing, which revealed homozygosity for a panethnic, common mutation, 960\/961insG in exon 7. The availability of mutation testing facilitated the confirmation of FBPase deficiency in this patient, obviating liver biopsy for enzyme activity confirmation. The patient underwent three successful pregnancies by strict compliance with dietary management, including nocturnal uncooked cornstarch to manage hypoglycaemia. The pregnancies were complicated by mild gestational diabetes, increased cornstarch requirements, and hypoglycaemia at the time of discharge from the hospital. The three infants had normal birth weights and experienced no complications during the neonatal period. The patient subsequently developed sensorineural hearing loss and early\u2010onset cognitive impairment, despite compliance with the monitoring and treatment of hypoglycaemia. The experience with multiple pregnancies in this FBPase\u2010deficient patient provides insight into the management of hypoglycaemia in inherited disorders of gluconeogenesis.<\/jats:p>","DOI":"10.1007\/s10545-007-0606-y","type":"journal-article","created":{"date-parts":[[2007,8,16]],"date-time":"2007-08-16T23:16:24Z","timestamp":1187306184000},"page":"819-819","source":"Crossref","is-referenced-by-count":25,"title":["Three successful pregnancies through dietary management of fructose\u20101,6\u2010bisphosphatase deficiency"],"prefix":"10.1002","volume":"30","author":[{"given":"V.","family":"Krishnamurthy","sequence":"first","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics Duke University Medical Center Durham NC USA"},{"name":"Sugarloaf Pediatrics Lawrenceville GA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Eschrich","sequence":"additional","affiliation":[{"name":"Institute of Biochemistry University of Leipzig, Medical Faculty Leipzig Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Boney","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics Duke University Medical Center Durham NC USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Sullivan","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics Duke University Medical Center Durham NC USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"McDonald","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics Duke University Medical Center Durham NC USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P. S.","family":"Kishnani","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics Duke University Medical Center Durham NC USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D. D.","family":"Koeberl","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics Duke University Medical Center Durham NC USA"},{"name":"Division of Medical Genetics DUMC Box 3528 Durham NC 27710 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2007,8,20]]},"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-007-0606-y","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-007-0606-y","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T01:02:21Z","timestamp":1694739741000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-007-0606-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,8,20]]},"references-count":0,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2007,10]]}},"alternative-id":["10.1007\/s10545-007-0606-y"],"URL":"https:\/\/doi.org\/10.1007\/s10545-007-0606-y","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,8,20]]}}}