METABOLIC MYOPATHIES: CLINICAL, BIOCHEMICAL, GENETIC AND HISTOPATHOLOGICAL BASIS OF DIAGNOSIS

Metabolic myopathies are inborn diseases of carbohydrate and lipid metabolism that takes place in cytoplasm and mitochondria. These characteristically result from lack of activity of one or more specific enzymes or their failure in the transportation of proteins. In this article, we present a systematic review of the clinical and biochemical basis of metabolic myopathy as most of this work has come up in last twenty years or so. Metabolic myopathies are frequently misdiagnosed because of lack of general awareness particularly among primary and secondary caregivers at neonatal, intensive care and pediatric out-patient units. This review includes inheritance patterns and clinical and laboratory findings of the more common metabolic myopathies within a clinical classification that give a general idea about these disorders. A summary of possible and hopeful treatment types for these diseases is given.