Mitochondrial Trifunctional Protein Deficiency With Recurrent Rhabdomyolysis

Oded Scheuerman*, Ronald J.A. Wanders, Hans R. Waterham, Gal Dubnov-Raz, Ben Zion Garty

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

16 Scopus citations


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 β oxidation defect. The clinical course was unique, and a new mutation in the mitochondrial trifunctional protein gene was identified.

Original languageEnglish
Pages (from-to)465-467
Number of pages3
JournalPediatric Neurology
Issue number6
StatePublished - Jun 2009


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