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Pediatr Neurol. 2009 Jun;40(6):465-7. doi: 10.1016/j.pediatrneurol.2008.12.017.

Mitochondrial trifunctional protein deficiency with recurrent rhabdomyolysis.

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Department of Pediatrics B, Schneider Children's Medical Center of Israel, Petah Tiqwa, Israel.


Rhabdomyolysis is an important clinical diagnosis. The differential diagnosis is extensive and includes various etiologies, such as infection, inflammation, trauma, endocrinopathies, and congenital muscular and metabolic disorders. Reported here is the case of an infant with recurrent rhabdomyolysis diagnosed as suffering from mitochondrial trifunctional protein deficiency -- a rare beta oxidation defect. The clinical course was unique, and a new mutation in the mitochondrial trifunctional protein gene was identified.

[Indexed for MEDLINE]

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