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.
Department of Pediatrics B, Schneider Children's Medical Center of Israel, Petah Tiqwa, Israel. odedshv@clalit.org.il
Oded
O
Scheuerman
Ronald J A
RJ
Wanders
Hans R
HR
Waterham
Gal
G
Dubnov-Raz
Ben-Zion
BZ
Garty
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