Glycogen storage disease type VII (Tarui disease): a case report presenting a PFKM variant previously described only in canine models.

A homozygous PFKM variant previously seen only in dogs causes glycogen storage disease type VII in an Italian woman, impairing muscle metabolism and causing clinical symptoms.

• Why it matters: Understanding rare genetic variants helps improve diagnosis and treatment of metabolic disorders like GSD-VII, especially when variants are identified in both humans and animal models.
• What they did: The team analyzed a patient with GSD-VII, confirming a homozygous missense mutation in PFKM (c.550C>T, p.Arg184Trp), previously reported only in Wachtelhund dogs, and measured severely reduced PFK activity in muscle tissue.
• The result: This finding links a canine PFKM variant to human disease, providing insights into disease mechanisms and expanding the genetic spectrum of GSD-VII, which may inform future diagnostics and therapies.