Publication |
2014
Abstract
A case report of 2-year-old boy with relapsing episodes of rhabdomyolysis is presented. The disorder of beta-oxidation of long chain fatty acid was presumed by the metabolic testing at the Institute of Inherited Metabolic Disorders.
The results of further special testing on the level of enzymes and gene activities led to the diagnosis of the mitochondrial trifunctional protein (MTP) deficit. Various causes of rhabdomyolysis, its clinical manifestation, diagnostic approach and treatment are listed at a glance in the discussion.