The 30-year Natural History of Non-classic Fabry Disease with an R112H Mutation.
Fabry disease
GLA
R112H
mutation
non-classic
Journal
Internal medicine (Tokyo, Japan)
ISSN: 1349-7235
Titre abrégé: Intern Med
Pays: Japan
ID NLM: 9204241
Informations de publication
Date de publication:
01 Jun 2022
01 Jun 2022
Historique:
pubmed:
23
11
2021
medline:
7
6
2022
entrez:
22
11
2021
Statut:
ppublish
Résumé
Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the alpha-galactosidase A (GLA) gene that results in deficiency of the enzyme GLA and leads to the accumulation of globotriaosylceramide (GL-3) in cells. The accumulation of GL-3 may lead to life-threatening complications. Significant advances in genetic sequencing technology have led to a better understanding of genotype-phenotype interactions in Fabry disease. Fabry disease with an R112H mutation is known as the non-classic type. However, the long-term clinical course of the disease remains unknown. We herein report a patient with a 30-year natural history of non-classic Fabry disease with an R112H mutation.
Identifiants
pubmed: 34803097
doi: 10.2169/internalmedicine.8213-21
pmc: PMC9259301
doi:
Substances chimiques
alpha-Galactosidase
EC 3.2.1.22
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
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