Combined PMM2-CDG and hereditary fructose intolerance in a patient with mild clinical presentation.
Consanguinity
Hereditary fructose intolerance
PMM2-CDG
Sorbitol
Under-galactosylation
Journal
Molecular genetics and metabolism
ISSN: 1096-7206
Titre abrégé: Mol Genet Metab
Pays: United States
ID NLM: 9805456
Informations de publication
Date de publication:
11 2023
11 2023
Historique:
received:
30
04
2023
revised:
02
07
2023
accepted:
08
08
2023
medline:
14
11
2023
pubmed:
20
8
2023
entrez:
19
8
2023
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 37597336
pii: S1096-7192(23)00312-8
doi: 10.1016/j.ymgme.2023.107682
pii:
doi:
Substances chimiques
Phosphotransferases (Phosphomutases)
EC 5.4.2.-
Fructose
30237-26-4
Sorbitol
506T60A25R
Sucrose
57-50-1
Types de publication
Case Reports
Journal Article
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
107682Subventions
Organisme : NINDS NIH HHS
ID : U54 NS115198
Pays : United States
Informations de copyright
Copyright © 2023 Elsevier Inc. All rights reserved.
Déclaration de conflit d'intérêts
Declaration of Competing Interest This work was supported by U54 NS115198 (GB, ACE and MH).