Expansion of the clinical phenotype of GALE deficiency.
B-cell deficiency
congenital disorders of glycosylation
dysmegakaryopoiesis
glycosylation
immune dysfunction
thrombocytopenia
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
10 2021
10 2021
Historique:
revised:
22
05
2021
received:
30
03
2021
accepted:
27
05
2021
pubmed:
24
6
2021
medline:
18
1
2022
entrez:
23
6
2021
Statut:
ppublish
Résumé
Congenital disorders of glycosylation are a group of rare monogenic inborn errors of metabolism caused by defective glycoprotein and glycolipid glycan synthesis and attachment. Here, we present a patient with galactose epimerase deficiency, also known as GALE deficiency, accompanied by pancytopenia and immune dysregulation. She was first identified by an abnormal newborn screen for galactosemia with subsequent genetic evaluation due to pancytopenia and immune dysregulation. The evaluation ultimately revealed that her known diagnosis of GALE deficiency was the cause of her hematologic and immune abnormalities. These findings further expand the clinical spectrum of disease of congenital disorders of glycosylation.
Identifiants
pubmed: 34159722
doi: 10.1002/ajmg.a.62384
doi:
Substances chimiques
Glycolipids
0
Polysaccharides
0
UDPglucose 4-Epimerase
EC 5.1.3.2
galactose epimerase
EC 5.1.3.2
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
3118-3121Informations de copyright
© 2021 Wiley Periodicals LLC.
Références
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