Mitochondrial trifunctional protein deficiency with recurrent rhabdomyolysis.
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.
Scheuerman
Oded
O
Department of Pediatrics B, Schneider Children's Medical Center of Israel, Petah Tiqwa, Israel. odedshv@clalit.org.il
Wanders
Ronald J A
RJ
Waterham
Hans R
HR
Dubnov-Raz
Gal
G
Garty
Ben-Zion
BZ
D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications*; D002648:Child; D005260:Female; D006801:Humans; D063991:Mitochondrial Trifunctional Protein; D009097:Multienzyme Complexes / Q000172:deficiency* / Q000235:genetics; D012206:Rhabdomyolysis / Q000150:complications*
D009097:Multienzyme Complexes; D063991:Mitochondrial Trifunctional Protein