{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T00:05:28Z","timestamp":1756339528378,"version":"3.44.0"},"reference-count":11,"publisher":"BMJ","issue":"11","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2021,10,17]]},"published-print":{"date-parts":[[2021,11]]},"abstract":"<jats:p>Fanconi-Bickel syndrome (FBS) is a rare autosomal recessive disease, resulting from mutations in the <jats:italic>SLC2A2<\/jats:italic> gene, causing impaired glucose transporter 2 protein transporter protein function, impaired glucose and galactose utilisation, hepatorenal glycogen accumulation and organ dysfunction. Clinical features include failure to thrive, hepatomegaly, rickets, short stature and delayed puberty. Therapy includes electrolyte supplementation and uncooked cornstarch. We present a 15-year-old boy diagnosed with FBS in infancy. Growth velocity was normal on standard treatment until age 8.5 years, at which time growth failure led to a diagnosis of acquired growth hormone (GH) deficiency. Initiation of recombinant human GH (rhGH) replacement of 0.25 \u03bcg\/kg\/week resulted in marked improvement in growth velocity and height. While short stature is expected in FBS, growth velocity that falls below the normal range despite adequate therapy should prompt further evaluation. Our case suggests that acquired GH deficiency can arise in FBS and benefits from rhGH therapy.<\/jats:p>","DOI":"10.1136\/bcr-2021-246212","type":"journal-article","created":{"date-parts":[[2021,11,2]],"date-time":"2021-11-02T13:55:56Z","timestamp":1635861356000},"page":"e246212","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["Acquired growth hormone deficiency in Fanconi-Bickel syndrome"],"prefix":"10.1136","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7886-9871","authenticated-orcid":false,"given":"Kevin J","family":"Scully","sequence":"first","affiliation":[{"name":"Division of Endocrinology, Boston Children's Hospital, Boston, Massachusetts, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joseph","family":"Wolfsdorf","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Boston Children's Hospital, Boston, Massachusetts, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Dedekian","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology, Maine Medical Center, Portland, Maine, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2021,11,2]]},"reference":[{"key":"2025082708350928000_14.11.e246212.1","doi-asserted-by":"crossref","first-page":"6286","DOI":"10.3390\/ijms21176286","article-title":"Fanconi\u2013bickel syndrome: a review of the mechanisms that lead to dysglycaemia","volume":"21","author":"Sharari","year":"2020","journal-title":"Int J Mol Sci"},{"key":"2025082708350928000_14.11.e246212.2","doi-asserted-by":"publisher","DOI":"10.1007\/s004310050937"},{"key":"2025082708350928000_14.11.e246212.3","doi-asserted-by":"crossref","first-page":"iv113","DOI":"10.1093\/ndt\/gfu018","article-title":"Acute metabolic acidosis in a GLUT2-deficient patient with Fanconi-Bickel syndrome: new pathophysiology insights","volume":"29(Suppl 4)","author":"Mihout","year":"2014","journal-title":"Nephrol Dial Transplant"},{"key":"2025082708350928000_14.11.e246212.4","doi-asserted-by":"crossref","DOI":"10.1186\/s13104-016-2184-2","article-title":"Fanconi-Bickel syndrome in two Palestinian children: marked phenotypic variability with identical mutation","volume":"9","author":"Dweikat","year":"2016","journal-title":"BMC Res Notes"},{"key":"2025082708350928000_14.11.e246212.5","first-page":"95-104","article-title":"Phenotypic variability in patients with fanconi-bickel syndrome with identical mutations","volume":"15","author":"Fridman","year":"2015","journal-title":"JIMD Rep"},{"key":"2025082708350928000_14.11.e246212.6","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1055\/s-0036-1584360","article-title":"Fanconi-Bickel syndrome: two Pakistani patients presenting with hypophosphatemic rickets","volume":"5","author":"Afroze","year":"2016","journal-title":"J Pediatr Genet"},{"key":"2025082708350928000_14.11.e246212.7","doi-asserted-by":"publisher","DOI":"10.1007\/BF00711753"},{"key":"2025082708350928000_14.11.e246212.8","doi-asserted-by":"publisher","DOI":"10.1038\/ng1197-327"},{"key":"2025082708350928000_14.11.e246212.9","doi-asserted-by":"publisher","DOI":"10.1007\/BF02254185"},{"key":"2025082708350928000_14.11.e246212.10","doi-asserted-by":"crossref","first-page":"540","DOI":"10.1002\/jimd.12203","article-title":"Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi-Bickel syndrome","volume":"43","author":"Pennisi","year":"2020","journal-title":"J Inherit Metab Dis"},{"key":"2025082708350928000_14.11.e246212.11","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2010-1706"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2021-246212","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T15:35:20Z","timestamp":1756308920000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2021-246212"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,11]]},"references-count":11,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2021,11,2]]},"published-print":{"date-parts":[[2021,11]]}},"alternative-id":["10.1136\/bcr-2021-246212"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2021-246212","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2021,11]]}}}