The 30-year Natural History of Non-classic Fabry Disease with an R112H Mutation

Intern Med. 2022 Jun 1;61(11):1727-1730. doi: 10.2169/internalmedicine.8213-21.

PMID: 34803097

Reiko Muto, Koji Inagaki, Noritoshi Kato

Highlights: This article is a report of a patient with a 30-year natural history of non-classic Fabry disease with an R112H mutation.

Abstract

Introduction: Alpha-galactosidase A (GLA) gene mutations that result in a lack of the enzyme GLA cause Fabry disease, a rare X-linked lysosomal storage disease that causes cells to accumulate globotriaosylceramide (GL-3). The accumulation of GL-3 can result in potentially fatal consequences. Significant improvements in genetic sequencing technologies have improved our knowledge of the relationships between genotype and phenotype in Fabry disease. A R112H mutation in Fabry disease is referred to as the non-classic form. The disease's long-term clinical course is still unknown, though.

Objective: This study describes a patient with an R112H mutation who has had non-classic Fabry disease for 30 years.

Keywords: Fabry disease, GLA, R112H, mutation, non-classic