Compound heterozygous p.L483P and p.S310G mutations in GBA1 cause type 1 adult Gaucher disease: A case report

Compound heterozygous p.L483P and p.S310G mutations in GBA1 cause type 1 adult Gaucher disease: A case report
World J Clin Cases. 2022 Dec 26;10(36):13426-13434. doi: 10.12998/wjcc.v10.i36.13426.ABSTRACTBACKGROUND: Gaucher disease (GD) is caused by a GBA1 gene mutation that leads to decreased acid β-glucosidase activity [glucocerebrosidase (GCase)]. This study aimed to identify and characterise compound heterozygous mutations in GBA1 in a patient with type 1 GD.CASE SUMMARY: Here, we report a rare adult-onset type 1 GD in a 46-year-old ... read more
Source: PubMedPublished on 2023-01-23By Xiao-Ling Wen