Mitochondrial trifunctional protein deficiency: an adult patient with similar progress to Charcot-Marie-Tooth disease
| Autor: | Yuki Yamamoto, Naoko Matsui, Yuishin Izumi, Yu Hiramatsu, Yoshimichi Miyazaki, Hiroyuki Nodera, Hiroshi Takashima, Ryuji Kaji |
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| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Male Pathology medicine.medical_specialty Lipid Metabolism Disorder Mitochondrial trifunctional protein deficiency Mitochondrial trifunctional protein Lipid Metabolism Inborn Errors Rhabdomyolysis Diagnosis Differential 03 medical and health sciences 0302 clinical medicine Charcot-Marie-Tooth Disease Recurrence Carnitine medicine Humans Genetic Testing Exome sequencing Genetics medicine.diagnostic_test biology business.industry Mitochondrial Trifunctional Protein Mitochondrial Myopathies Peripheral Nervous System Diseases Middle Aged medicine.disease 030104 developmental biology Peripheral neuropathy Mitochondrial Trifunctional Protein beta Subunit Mutation Nerve conduction study biology.protein Disease Progression Neurology (clinical) Nervous System Diseases business Cardiomyopathies 030217 neurology & neurosurgery HADHB Biomarkers |
| Zdroj: | Rinsho shinkeigaku = Clinical neurology. 57(2) |
| ISSN: | 1882-0654 |
| Popis: | A 45-year-old man presented to us due to slowly progressive muscle weakness and sensory disturbances in his lower limbs since his 40's. He reported multiple episodes of exercise-induced severe muscle fatigue and brown urine in his childhood, which disappeared by age 20. A nerve conduction study showed peripheral axonal neuropathy and then Charcot-Marie-Tooth disease (CMT) was considered as the most likely diagnosis; however, exome sequencing failed to identify a mutation in the known genes of CMTs. Since age 55, he recurrently developed severe rhabdomyolysis that required hospitalization. On suspicion of lipid metabolism disorders, we performed serum acylcarnitine analysis, and which revealed mildly elevated long-chain fatty acids. We re-examined variants obtained via exome sequencing and found a mutation in HADHB. Mitochondrial trifunctional protein (MTP) deficiency is a rare autosomal recessive disorder of mitochondrial fatty acid beta-oxidation caused by HADHA or HADHB mutation. It can be a life-threatening multiorgan disorder with early infantile onset, but it can also present in childhood or adolescence with peripheral neuropathy and recurrent rhabdomyolysis. This case of adult-diagnosed MTP deficiency was characterized by slowly progressive peripheral neuropathy masquerading CMT in addition to muscular symptoms. MTP deficiency should be considered in patients with the combination of peripheral neuropathy and recurrent rhabdomyolysis. |
| Databáze: | OpenAIRE |
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