The frequency of Duchenne muscular dystrophy/Becker muscular dystrophy and Pompe disease in children with isolated transaminase elevation: results from the observational VICTORIA study

Introduction Elevated transaminases and/or creatine phosphokinase can indicate underlying muscle disease. Therefore, this study aims to determine the frequency of Duchenne muscular dystrophy/Becker dystrophy (DMD/BMD) in male children and Pompe disease (PD) female with isolated hypertransaminasemia. Methods This multi-center, prospective enrolled patients aged 3–216 months serum alanine transaminase (ALT) aspartate (AST) levels >2× upper limit normal (ULN) for ≥3 months. Patients a known history liver or physical examination findings suggestive were excluded. screened creatinine (CPK) levels, molecular genetic tests DMD/BMD enzyme analysis PD elevated CPK performed. Genetic analyses confirmed PD. Demographic, clinical, laboratory characteristics analyzed. Results Overall, 589 [66.8% male, mean age 63.4 (standard deviation: 60.5)] included. In total, 251 (188 63 female) had above ULN. Of assessed, 47% (85/182) diagnosed 1% (3/228) The median ALT, AST, statistically significantly higher, questioned neurological symptoms previously unnoticed more common than those without ( p < 0.001). Discussion Questioning symptoms, conducting complete examination, testing hypertransaminasemia will prevent costly time-consuming investigations diseases lead diagnosis occult neuromuscular diseases. Trial Registration Clinicaltrials.gov NCT04120168.