Abstract: A  young  male  patient  has  been  experiencing  proteinuria  for  over  10  years.  Clinical  examination revealed hepatomegaly, low fasting blood glucose, hyperuricemia, hyperlipidemia, and osteoporosis. Renal biopsy histology indicated enlarged glomeruli  with  global  sclerosis,  as  well  as  hypertrophic  and  dilated  tubular  epithelial  cells  exhibiting vacuolar degeneration and glycogen deposition. Subsequent genetic testing identified a mutation in the G6PC gene (c.648G>T), leading to the diagnosis of type Ia glycogen storage disease⁃related renal damage in this patient.

Key words:  , type Ia glycogen storage disease renal damage glycogen deposition genetic variants