Trifunctional enzyme deficiency: Adult presentation of a usually fatal β‐oxidation defect

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Abstract
Disorders of mitochondrial fatty acid oxidation are a common cause of exercise‐induced rhabdomyolysis and myoglobinuria. We report three adult patients from a family with symptoms of recurrent exercise‐induced rhabdomylysis. This presentation closely resembles adult‐type carnitine palmitoyltransferase II deficiency except that these patients had an associated peripheral neuropathy. Investigation of fatty acid oxidation in the patients revealed a deficiencyof the mitochondrial trifunctional enzyme of β‐oxidation, a newly described fatty acid oxidation disorder with multiorgan involvement and a usually fatal outcome in early childhood. Our cases therefore represent a new phenotype of the disease, which is characterized by recurrent rhabdomyolysis and peripheral neuropathy, but without involvement of other organs, and which is associated with prolonged survival beyond the fourth decade. A low‐fat/high‐carbohydrate diet proved bneficial in one of the patients, drastically reducing the frequency of rhabdomyloytic episodes. Our findings suggest that mitochondrial trifnctional enzyme deficiency should be considered in patients with recurrent eipsodes of myoglobinuria and peripheral neuropathy presenting in later life.

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