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This patient had insulin-dependent diabetes since a pancreatectomy at age 9 months due to continued episodes of hypoglycaemia and suspected insulinoma. During the hospital stay, the hepatic adenomas were embolised, but significant lactic acidosis and hypoglycaemia continued. Further workup revealed a chronic lactic acid level, during several hospital stays, of above 5\u2009mmol\/L. After cytology of hepatic tissue ruled out hepatocellular carcinoma, the patient was discharged and recommended to follow-up for genetic testing, which confirmed the diagnosis of GSD1A.<\/jats:p>","DOI":"10.1136\/bcr-2023-259355","type":"journal-article","created":{"date-parts":[[2024,5,22]],"date-time":"2024-05-22T23:46:49Z","timestamp":1716421609000},"page":"e259355","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Previously undiagnosed genetic disease in adult patient with hepatic masses and reported history of congenital hyperinsulinism"],"prefix":"10.1136","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-9715-3406","authenticated-orcid":false,"given":"Jacob","family":"Kuzy","sequence":"first","affiliation":[{"name":"Medical College, Drexel University College of Medicine, Philadelphia, Pennsylvania, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yochitha","family":"Pulipati","sequence":"additional","affiliation":[{"name":"Allegheny Health Network Graduate Medical Education, Pittsburgh, Pennsylvania, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4793-5914","authenticated-orcid":false,"given":"Thomas","family":"Robertson","sequence":"additional","affiliation":[{"name":"Internal Medicine, Allegheny Health Network, Pittsburgh, Pennsylvania, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2024,5,22]]},"reference":[{"key":"2025082702030302000_17.5.e259355.1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.128"},{"key":"2025082702030302000_17.5.e259355.2","unstructured":"Parikh NS , Ahlawat R . 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