{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,29]],"date-time":"2025-08-29T00:02:49Z","timestamp":1756425769185,"version":"3.44.0"},"reference-count":16,"publisher":"BMJ","issue":"8","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2021,8,17]]},"published-print":{"date-parts":[[2021,8]]},"abstract":"<jats:p>Classic galactosaemia is the most severe type, inherited in an autosomal recessive fashion and normally detected on newborn screening. It is caused by an inability to digest galactose due to a deficiency of galactose-1-phosphate uridyltransferase (GALT), resulting in an intolerance of feeds in the neonatal period, failure to thrive, hypoglycaemia, jaundice, cataracts, hepatomegaly, vomiting, diarrhoea, developmental delay and an increased risk of <jats:italic>Escherichia coli<\/jats:italic> sepsis. The long-term sequelae of this disorder include cognitive impairment, neurological symptoms, such as ataxia, nutritional deficiencies, such as calcium and vitamin D, and gonadal dysfunction. We report here a case of a 34-year-old woman with classic galactosaemia diagnosed in adulthood, developing primary ovarian insufficiency and osteoporosis as well as primary adrenal insufficiency and chronic myeloid leukaemia, which are two associations not seen in current literature. Further studies are needed to determine if an association exists between these diseases.<\/jats:p>","DOI":"10.1136\/bcr-2021-244788","type":"journal-article","created":{"date-parts":[[2021,8,25]],"date-time":"2021-08-25T13:11:04Z","timestamp":1629897064000},"page":"e244788","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Galactosaemia occurring in association with primary ovarian insufficiency, Addison\u2019s disease and chronic myeloid leukaemia"],"prefix":"10.1136","volume":"14","author":[{"given":"Brandon","family":"Khoury","sequence":"first","affiliation":[{"name":"Endocrinology, Walter Reed National Military Medical Center, Bethesda, Maryland, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohamed KM","family":"Shakir","sequence":"additional","affiliation":[{"name":"Endocrinology, Walter Reed National Military Medical Center, Bethesda, Maryland, USA"},{"name":"Endocrinology, Uniformed Services University of the Health Sciences, Bethesda, MD, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7437-5604","authenticated-orcid":false,"given":"Thanh Duc","family":"Hoang","sequence":"additional","affiliation":[{"name":"Endocrinology, Walter Reed National Military Medical Center, Bethesda, Maryland, USA"},{"name":"Endocrinology, Uniformed Services University of the Health Sciences, Bethesda, MD, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2021,8,25]]},"reference":[{"key":"2025082800214766000_14.8.e244788.1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-017-0029-3"},{"key":"2025082800214766000_14.8.e244788.2","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-019-1047-z","article-title":"The natural history of classic galactosemia: lessons from the GalNet registry","volume":"14","author":"Rubio-Gozalbo","year":"2019","journal-title":"Orphanet J Rare Dis"},{"key":"2025082800214766000_14.8.e244788.3","doi-asserted-by":"crossref","unstructured":"Groshans K , Price J , Hawley J . An unusual case of untreated galactosemia in an adult woman (1562). Neurology 2020;94.","DOI":"10.1212\/WNL.94.15_supplement.1562"},{"key":"2025082800214766000_14.8.e244788.4","unstructured":"Stone WL , Basit H , Los E . Fragile X Syndrome. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing, 2021. 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