Trifunctional enzyme deficiency: adult presentation of a usually fatal beta-oxidation defect
| Autor: | Jochen Schaefer, D J Dick, Sandra Jackson, Douglass M. Turnbull |
|---|---|
| Rok vydání: | 1996 |
| Předmět: |
Adult
Male medicine.medical_specialty Diet therapy Immunoblotting Mitochondrial trifunctional protein deficiency Biology Polymerase Chain Reaction Rhabdomyolysis Internal medicine medicine Humans Age of Onset Beta oxidation Exercise Carnitine O-Palmitoyltransferase Myoglobinuria Fatty Acids medicine.disease Mitochondria Muscle Pedigree Peripheral neuropathy Endocrinology Phenotype Neurology Neurology (clinical) Carnitine palmitoyltransferase II deficiency Polyneuropathy Oxidation-Reduction Diet Therapy |
| Zdroj: | Annals of neurology. 40(4) |
| ISSN: | 0364-5134 |
| Popis: | 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 rhabdomyolysis. 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 deficiency of the mitochondrial trifunctional enzyme of beta-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 beneficial in one of the patients, drastically reducing the frequency of rhabdomyolytic episodes. Our findings suggest that mitochondrial trifunctional enzyme deficiency should be considered in patients with recurrent episodes of myoglobinuria and peripheral neuropathy presenting in later life. |
| Databáze: | OpenAIRE |
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