Tóm tắt:

The present study reports a Vietnamese family with a 6-month-old male patient diagnosed with type Ia glycogen storage disease. A homozygous variant in the G6PC gene (NM_000151.3: c.518T>C; p.L173P) was detected in the proband using a comprehensive glycogen storage disease panel. This variant has been previously reported in ClinVar (Accession ClinVar: VCV000640818.3). The segregation of the variant was confirmed in ten people of a 3-generation family using Sanger sequencing. The results showed both parents were heterozygous for the variant.