title: Consider muscle disease in children with elevated transaminase.
abstract: The transaminases alanine aminotransferase (ALT) and aspartate aminotransferase (AST) are markers of hepatocellular injury but are highly concentrated in muscle cells. Consequently, muscular dystrophies such as Duchenne muscular dystrophy, lead to hypertransaminasemia. Elevation in ALT and AST is most striking during the early stages of disease, before onset of or when only subtle signs of muscle disease are present. Thus, the incidental finding of elevated ALT/AST may be the presenting sign of muscle disease in many children and provides an opportunity for early diagnosis. Many physicians, however, pursue extensive workup for liver disease in children who present with the incidental finding of elevated ALT/AST. This results in delayed diagnosis and initiation of treatment and increased expense and may lead to unnecessary invasive procedures. We report 12 patients with muscle disease who presented with a variety of symptoms and were found to have an incidental finding of elevated ALT/AST. We propose a rapid screening process for evaluating children with the incidental finding of elevated ALT/AST to shorten the time to diagnosis of muscle disease.
authors: Department of Pediatrics, Neurology Section, University of Colorado Anschutz Medical Campus, School of Medicine, Children's Hospital Colorado, Aurora, CO, USA.
authors: Melissa A
authors: MA
authors: Wright
authors: Michele L
authors: ML
authors: Yang
authors: Julie A
authors: JA
authors: Parsons
authors: John M
authors: JM
authors: Westfall
authors: Audrey S
authors: AS
authors: Yee
mesh_terms: D000410:Alanine Transaminase / Q000097:blood*; D001219:Aspartate Aminotransferases / Q000097:blood*; D015415:Biomarkers / Q000097:blood; D002648:Child; D002675:Child, Preschool; D004796:Clinical Enzyme Tests; D042241:Early Diagnosis; D005260:Female; D006801:Humans; D033162:Incidental Findings; D007223:Infant; D008297:Male; D018908:Muscle Weakness / Q000175:diagnosis; D009136:Muscular Dystrophies / Q000175:diagnosis*; D019564:Unnecessary Procedures
chemical_list: D015415:Biomarkers; D001219:Aspartate Aminotransferases; D000410:Alanine Transaminase