Persisterende verhoging van transaminasewaarden: Een patiënt met een late variant van de ziekte van Pomp

Background: Pompe disease is a rare hereditary glycogen storage disease. Disease progression can be delayed by enzyme replacement therapy, which makes early identification important. Sometimes, the clinical presentation can be atypical, which may result in late recognition. Case description: A 23-year-old male presented with mild fatigue and persistently elevated liver transaminase levels. Biochemical, metabolic, viral, autoimmune, and toxicological examination, augmented with imaging and liver biopsy, initially did not result in a diagnosis. During follow-up, alongside the known liver test abnormalities, increased CK levels were observed. A muscle biopsy demonstrated abnormal glycogen accumulation, indicative of Pompe disease. Conclusion: Persistently elevated levels of transaminases are not limited to liver pathology. In patients with this phenomenon, one should also consider extrahepatic causes.