EVALUATION OF PLASMA LACTATE CONCENTRATION IN UNEXPLAINED MYOPATHIES WITH MULTI-ORGAN INVOLVEMENT

ABSTRACT: Myopathies are disorders of muscle with structural changes or functional impairment. Mitochondrial myopathies are caused by genetic mutations that directly influence the functioning of the electron transport chain. The ubiquitous distribution of the mitochondria in the human body explains the multiple organ involvement. Diagnosis often requires a multifaceted approach with measurements of serum lactate, magnetic resonance spectroscopy, muscle histology and ultrastructure, enzymology, genetic analysis, and exercise testing. The present study was conducted to find out the reason behind unexplained myopathies with multi-organ involvement by measuring plasma lactate concentration in patients who were suspected to be suffering from mitochondrial disorders. Muscle biopsy samples of those patients were also subjected for histopathological assessment. Out of twenty suspected patients, nine patients showed high lactate concentration and their muscle biopsy sample also revealed some changes suggestive of mitochondrial disorders.
KEYWORDS:  mitochondria, lactate, myopathy.