Details

Autor(en) / Beteiligte

• Muto, Reiko
• Inagaki, Koji
• Kato, Noritoshi
• Maruyama, Shoichi
• Akahori, Toshiyuki

Titel

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

Ist Teil von

• Internal Medicine, 2022/06/01, Vol.61(11), pp.1727-1730

Ort / Verlag

Japan: The Japanese Society of Internal Medicine

Erscheinungsjahr

2022

Link zum Volltext

Quelle

EZB Electronic Journals Library

Beschreibungen/Notizen

• 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.