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Clinical hallmarks of FBPase deficiency include hypoglycaemia and lactic acidosis with or without ketosis. Patients commonly present with hyperventilation, vomiting, tachycardia, reduced consciousness and glucagon\u2010resistant hypoglycaemia. Between crises, patients are usually well with normal growth and development; however significant ingestion of fructose, sucrose or glycerol during acute crises may be fatal, hence the importance of a prompt diagnosis. We present the case of a 30\u2010year\u2010old male who presented to our tertiary centre acutely unwell, shortly following a diagnosis of hepatitis C, which we speculate may have precipitated this severe presentation. He had similar, milder episodes throughout childhood. Furthermore, a pathological homozygous sequence variant in fructose\u20101,6\u2010bisphosphatase (<jats:italic>FBP1<\/jats:italic>) gene, previously unreported, was identified. Diagnosis in adulthood is underreported in the literature, however, represents an important, albeit rare, cause of hypoglycaemia and lactic acidosis.<\/jats:p>","DOI":"10.1002\/jmd2.12256","type":"journal-article","created":{"date-parts":[[2022,2,17]],"date-time":"2022-02-17T08:40:33Z","timestamp":1645087233000},"page":"109-113","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["A novel variant of fructose\u20101,6\u2010bisphosphatase gene identified in an adult with newly diagnosed hepatitis C"],"prefix":"10.1002","volume":"63","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6330-6643","authenticated-orcid":false,"given":"Helena","family":"Fawdry","sequence":"first","affiliation":[{"name":"St Bartholomew's Hospital  London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rebecca","family":"Gorrigan","sequence":"additional","affiliation":[{"name":"Royal London Hospital  London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Radha","family":"Ramachandran","sequence":"additional","affiliation":[{"name":"Guy's and St Thomas'  London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William M.","family":"Drake","sequence":"additional","affiliation":[{"name":"St Bartholomew's Hospital  London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,2,17]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.3390\/nu9040356"},{"key":"e_1_2_12_3_1","first-page":"1","article-title":"Fructose\u20101,6\u2010bisphosphatase deficiency","author":"Bijarnia\u2010Mahay S","year":"2019","journal-title":"GeneReviews"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2013_290"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1995.1085"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-662-49771-5_8"},{"key":"e_1_2_12_7_1","article-title":"Fructose\u20101,6\u2010diphosphatase deficiency: a treatable neurometabolic disorder","volume":"2014","author":"Kamate M","year":"2014","journal-title":"Case Rep"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(80)90204-X"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00277-003-0784-0"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-007-0606-y"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.4103\/0366-6999.211890"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bpg.2010.07.012"},{"issue":"11","key":"e_1_2_12_13_1","first-page":"1030","article-title":"Edema cerebral transitorio asociado a hipoglucemia [Transient cerebral oedema associated to hypoglycaemia]","volume":"39","author":"Berbel\u2010Garc\u00eda A","year":"2004","journal-title":"Rev Neurol"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/ahg.12256"},{"issue":"2","key":"e_1_2_12_15_1","first-page":"140","article-title":"Fructose\u20101,6\u2010diphosphatase deficiency: a 20\u2010year follow\u2010up","volume":"143","author":"Elpeleg ON","year":"1989","journal-title":"Am J Dis Child"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-016-0415-1"},{"key":"e_1_2_12_17_1","unstructured":"Ensembl GRCh38.p13 (Genome Reference Consortium Human Build 38) INSDC Assembly. 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