TY - JOUR
T1 - Mitochondrial Trifunctional Protein Deficiency With Recurrent Rhabdomyolysis
AU - Scheuerman, Oded
AU - Wanders, Ronald J.A.
AU - Waterham, Hans R.
AU - Dubnov-Raz, Gal
AU - Garty, Ben Zion
PY - 2009/6
Y1 - 2009/6
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=65449184878&partnerID=8YFLogxK
U2 - 10.1016/j.pediatrneurol.2008.12.017
DO - 10.1016/j.pediatrneurol.2008.12.017
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C2 - 19433283
AN - SCOPUS:65449184878
SN - 0887-8994
VL - 40
SP - 465
EP - 467
JO - Pediatric Neurology
JF - Pediatric Neurology
IS - 6
ER -