Gut and Liver (Jan 2021)

Corrigendum: Unmet Psychosocial Needs of Patients Newly Diagnosed with Ulcerative Colitis: Results from the Nationwide Prospective Cohort Study in Korea

  • Jung Rock Moon,
  • Chang Kyun Lee,
  • Sung Noh Hong,
  • Jong Pil Im,
  • Byong Duk Ye,
  • Jae Myung Cha,
  • Sung-Ae Jung,
  • Kang-Moon Lee,
  • Dong Il Park,
  • Yoon Tae Jeen,
  • Young Sook Park,
  • Jae Hee Cheon,
  • Hyesung Kim,
  • BoJeong Seo,
  • Youngdoe Kim,
  • Hyo Jong Kim,
  • the MOSAIK study group of the Korean Association for the Study of Intestinal Diseases (KASID)

DOI
https://doi.org/10.5009/gnl15011
Journal volume & issue
Vol. 15, no. 1
pp. 146 – 147

Abstract

Read online

Hereditary fructose intolerance (HFI) is an autosomal recessive disorder caused by a mutation in the aldolase B gene. HFI patients exhibit nausea, vomiting, abdominal pain, hypoglycemia, and elevated liver enzymes after dietary fructose exposure. Chronic exposure might lead to failure to thrive, liver failure, renal failure, and, eventually, death. HFI usually manifests in infants when they are being weaned off of breastmilk. Because HFI has an excellent prognosis when patients maintain a strict restrictive diet, some patients remain undiagnosed due to the voluntary avoidance of sweet foods. In the past, HFI was diagnosed using a fructose tolerance test, liver enzyme assays or intestinal biopsy specimens. Currently, HFI is diagnosed through the analysis of aldolase B mutations. Here, HFI was diagnosed in a 41-year-old woman who complained of sweating, nausea, and vomiting after consuming sweets. She had a compound heterozygous mutation in the aldolase B gene; gene analysis revealed pathogenic nonsense (c.178C>T, p.Arg60Ter) and frameshift (c.360_363delCAAA, p.Asn120LysfsTer32) variants. This is the first report of a Korean HFI patient diagnosed in adulthood.