Elevated Transaminases: Does It Always Warrant a Liver Biopsy? Lessons Learned From Pompe Disease.

ABSTRACT: Pompe disease (PD) is an autosomal recessive disorder caused by pathogenic variants in GAA, resulting in acid alpha-glucosidase (GAA) deficiency and lysosomal glycogen accumulation. PD is classified into infantile-onset (IOPD), characterized by cardiomyopathy and death within the first year if untreated, and late-onset (LOPD), which presents with gradual muscle weakness at variable ages. Incidentally elevated transaminase levels are common in LOPD and reflect muscle injury rather than liver damage. Creatine kinase (CK) levels are often elevated too, further indicating a myopathic origin. However, these elevated transaminases may be misattributed to liver disease, prompting a liver biopsy. Three charts of patients who underwent liver biopsies prior to a LOPD diagnosis were reviewed,

SUBMITTER: Khazzeka A 

PROVIDER: S-EPMC12643788 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature