OBJECTIVE Serum alanine transaminase (ALT) and aspartate transaminase (AST) levels are commonly used as biochemical indicators of hepatocellular injury but can also detect occult muscle disease. High concomitant serum creatine phosphokinase (CPK) levels can point to muscle as the source of high transaminase levels. Nevertheless, clinicians may be reluctant to attribute high transaminase levels to muscle.
METHODS Study patients were boys with a genetic or biopsy-confirmed dystrophinopathy whose concomitant serum CPK, ALT, and AST levels were measured.
RESULTS We report 82 enzyme data sets from 46 patients with Duchenne muscular dystrophy (DMD) and 9 with Becker muscular dystrophy. Our results show a linear relationship between serum CPK and serum ALT and AST and a logarithmic relationship between serum enzyme levels and age for boys with DMD. We developed a mathematical model to predict serum ALT and AST levels when the serum CPK level and age are known. For 6 boys, initial failure to consider muscle as a cause of high transaminase levels led to delay of diagnosis and extensive testing for hepatic dysfunction. A second group of 4 boys with known DMD were investigated for liver disease after high transaminase levels were detected. Serum transaminase levels were highest in ambulant boys with DMD, whose levels reached 1220 U/L (ALT) (22.6 times higher than upper-limit normal levels) and 801 U/L (AST) (12.3 times higher than upper-limit normal levels).
CONCLUSIONS By recognizing muscle as a potential source of serum transaminase levels, clinicians can avoid unnecessary and invasive procedures, expedite clinical diagnosis, and avoid unnecessary cessation of concomitant drug therapy.
Hugh J. McMillan, MD, MSca, Matt Gregas, PhDb, Basil T. Darras, MDa, Peter B. Kang, MDa
a Department of Neurology and
b Clinical Research Program, Children's Hospital Boston, Harvard Medical School, Boston, Massachusetts
