Combined PMM2-CDG and hereditary fructose intolerance in a patient with mild clinical presentation

Mol Genet Metab. 2023 Nov;140(3):107682. doi: 10.1016/j.ymgme.2023.107682. Epub 2023 Aug 9.

Abstract

We report a patient with an extremely rare, combined diagnosis of PMM2-CDG and hereditary fructose intolerance (HFI). By comparing with other patients, under-galactosylation was identified as a feature of HFI. Fructose/sorbitol/sucrose restriction was initiated right afterwards. The patient is at the mild end of the PMM2-CDG spectrum, raising the question of sorbitol's role in the pathogenesis of PMM2-CDG and whether fructose/sorbitol/sucrose restriction could benefit other PMM2-CDG patients. Additionally, epalrestat, an emerging potential PMM2-CDG therapy, may benefit HFI patients.

Keywords: Consanguinity; Hereditary fructose intolerance; PMM2-CDG; Sorbitol; Under-galactosylation.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural

MeSH terms

  • Congenital Disorders of Glycosylation* / diagnosis
  • Congenital Disorders of Glycosylation* / genetics
  • Fructose / therapeutic use
  • Fructose Intolerance* / diagnosis
  • Fructose Intolerance* / genetics
  • Humans
  • Phosphotransferases (Phosphomutases)*
  • Sorbitol / therapeutic use
  • Sucrose / therapeutic use

Substances

  • Phosphotransferases (Phosphomutases)
  • Fructose
  • Sorbitol
  • Sucrose

Supplementary concepts

  • Congenital disorder of glycosylation type 1A