Myopathies with Normal CPK but Elevated Aldolase

Primary Causes

The American College of Physicians recommends considering glycogen storage diseases (Types IIIa, IV, V, VII) in patients with elevated aldolase, as they can present with this biochemical pattern 2
The European Neurological Society suggests that mitochondrial myopathies demonstrate ragged red fibers on Gomori trichrome stain, and this finding is associated with elevated aldolase 1

The American College of Rheumatology recommends assessing for dermatomyositis features first when aldolase is elevated but CPK is normal, including examining for cutaneous manifestations and checking inflammatory markers 3
The European League Against Rheumatism suggests obtaining EMG to differentiate myopathic from neuropathic processes, as myopathic changes include polyphasic motor unit potentials of short duration and low amplitude 1
The American Academy of Neurology recommends considering MRI of affected muscles to detect muscle inflammation and target muscle for biopsy 4

The American Association for Clinical Chemistry recommends testing for other muscle enzymes, such as AST, ALT, and LDH, as they may be elevated and provide clues for diagnosis 2
The European Society of Human Genetics suggests including autoantibody testing, such as myositis-specific antibodies (anti-Jo-1, anti-Mi2, anti-SRP) and anti-synthetase panel, in the diagnostic workup 1

The American College of Physicians recommends that most myopathies with isolated aldolase elevation are treatable, making accurate diagnosis critical for patient outcomes, and that inflammatory myopathies require immunosuppression, while metabolic myopathies need enzyme replacement or metabolic management 1, 2