Two cases of a non-progressive hepatic form of glycogen storage disease type IV with atypical liver pathology.
ALT, alanine aminotransferase
AST, aspartate transaminase
Andersen disease
COI, cut-off index
GBE, glycogen-branching enzyme
GBE1
GSD IV
GSD IV, Glycogen storage disease type IV
M2BPGi
M2BPGi, Mac-2 binding protein glycosylation isomer
Nutrition therapy
PAS, periodic acid-Schiff
PAS-D, periodic acid-Schiff-diastase
SD, standard deviation
γ-GTP, gamma-glutamyltransferase
Journal
Molecular genetics and metabolism reports
ISSN: 2214-4269
Titre abrégé: Mol Genet Metab Rep
Pays: United States
ID NLM: 101624422
Informations de publication
Date de publication:
Sep 2020
Sep 2020
Historique:
received:
21
03
2020
revised:
02
05
2020
accepted:
02
05
2020
entrez:
27
5
2020
pubmed:
27
5
2020
medline:
27
5
2020
Statut:
epublish
Résumé
Glycogen storage disease type IV (GSD IV) is a rare inborn metabolic disorder characterized by the accumulation of amylopectin-like glycogen in the liver or other organs. The hepatic subtype may appear normal at birth but rapidly develops to liver cirrhosis in infancy. Liver pathological findings help diagnose the hepatic form of the disease, supported by analyses of enzyme activity and
Identifiants
pubmed: 32455116
doi: 10.1016/j.ymgmr.2020.100601
pii: S2214-4269(20)30047-1
pii: 100601
pmc: PMC7235638
doi:
Types de publication
Case Reports
Langues
eng
Pagination
100601Informations de copyright
© 2020 The Authors.
Déclaration de conflit d'intérêts
All the authors declare that they have no conflicts of interest to disclose.
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