Mitochondrial trifunctional protein deficiency: A rare cause of adult‐onset rhabdomyolysis |
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Authors: | Teerin Liewluck MD Manpreet S Mundi MD Michelle L Mauermann MD |
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Institution: | 1. Department of Neurology, Mayo Clinic College of Medicine, , Rochester, Minnesota, 55905 USA;2. Division of Endocrinology, Department of Medicine, Mayo Clinic College of Medicine, , Rochester, Minnesota, USA |
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Abstract: | Introduction: Mitochondrial trifunctional protein deficiency is a rare autosomal recessive disorder of mitochondrial fatty acid β‐oxidation that may be due to mutations in 2 different nuclear genes, HADHA and HADHB. Perturbation of this multienzyme complex compromises the oxidation of long‐chain fatty acids, which leads to multiorgan dysfunction. Childhood‐ or adolescent‐onset recurrent rhabdomyolysis is a common muscular manifestation and is preceded frequently by clinically overt peripheral neuropathy. Methods: In this report we describe a patient with late adult‐onset recurrent rhabdomyolysis. Results: Despite normal sensory examination, nerve conduction studies showed a mild axonal peripheral neuropathy. The acylcarnitine profile showed elevated long‐chain and 3‐hydroxy long‐chain acylcarnitine species. HADHA sequencing revealed known compound heterozygous mutations c.180+3A>G (p.Thr37SerfsX6) and c.1528G>C (p.Glu510Gln). During a 10‐month follow‐up period, he had no further episodes of rhabdomyolysis after appropriate dietary modifications. Conclusions: Mitochondrial trifunctional protein deficiency should be considered in patients with adult‐onset recurrent rhabdomyolysis, especially in those with either clinically overt or subclinical peripheral neuropathy. Muscle Nerve 48 : 989–991, 2013 |
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Keywords: | HADHA HADHB long‐chain fatty acid mitochondrial trifunctional protein deficiency peripheral neuropathy rhabdomyolysis |
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