Pediatr. praxi. 2014;15(1):38-41
Rhabdomyolysis as the manifestation of in born energy metabolism error in 2-year-old boy
- 1 Dětské oddělení Nemocnice Třinec, p. o.
- 2 Ústav dědičných metabolických poruch, VFN a 1. LF UK, Praha
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.
Keywords: rhabdomyolysis, beta-oxidation of long chain fatty acid, mitochondrial trifunctional protein deficiency
Published: February 15, 2014 Show citation
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