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Combined PMM2-CDG and hereditary fructose intolerance in a patient with mild clinical presentation.
- Source :
-
Molecular genetics and metabolism [Mol Genet Metab] 2023 Nov; Vol. 140 (3), pp. 107682. Date of Electronic Publication: 2023 Aug 09. - Publication Year :
- 2023
-
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.<br />Competing Interests: Declaration of Competing Interest This work was supported by U54 NS115198 (GB, ACE and MH).<br /> (Copyright © 2023 Elsevier Inc. All rights reserved.)
Details
- Language :
- English
- ISSN :
- 1096-7206
- Volume :
- 140
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Molecular genetics and metabolism
- Publication Type :
- Academic Journal
- Accession number :
- 37597336
- Full Text :
- https://doi.org/10.1016/j.ymgme.2023.107682