| Title | Severe sensory neuropathy In patients with adult-onset multiple acyl-CoA dehydrogenase deficiency |
| Authors | Wang, Zhaoxia Hong, Daojun Zhang, Wei Li, Wurong Shi, Xin Zhao, Danhua Yang, Xu Lv, He Yuan, Yull |
| Affiliation | Peking Univ, Hosp 1, Dept Neurol, Xishiku St 8, Beijing 100034, Peoples R China. Nanchang Univ, Affiliated Hosp 1, Dept Neurol, Nanchang, Peoples R China. Capital Med Univ, Beijing Ditan Hosp, Dept Neurol, Beijing, Peoples R China. China Aerosp Corp, Cent Hosp, Dept Neurol, Beijing, Peoples R China. |
| Keywords | Multiple Acyl-CoA dehydrogenase deficiency Sensory neuropathy ETFDH Phenotype LIPID STORAGE MYOPATHIES COENZYME-Q10 DEFICIENCY OXIDATIVE STRESS CHINESE PATIENTS MUTATIONS METABOLISM DEFECTS |
| Issue Date | 2016 |
| Publisher | NEUROMUSCULAR DISORDERS |
| Citation | NEUROMUSCULAR DISORDERS.2016,26,(2),170-175. |
| Abstract | Multiple Acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder of fatty acid oxidation. Most patients with late-onset MADD are clinically characterized by lipid storage myopathy with dramatic responsiveness to riboflavin treatment. Abnormalities of peripheral neuropathy have rarely been reported in patients with late-onset MADD. We describe six patients who presented with proximal limb weakness and loss of sensation in the distal limbs. Muscle biopsy revealed typical myopathological patterns of lipid storage myopathy and blood acylcarnitine profiles showed a combined elevation of multiple acylcarnitines supporting the diagnosis of MADD. However, nerve conduction investigations and rural nerve biopsies in these patients indicated severe axonal sensory neuropathy. Causative ETFDH gene mutations were found in all six cases. No other causative gene mutations were identified in mitochondrial DNA and genes associated with hereditary neuropathies through next generation-sequencing panel. Late-onset patients with ETFDH mutations can present with proximal muscle weakness and distal sensory neuropathy, which might be a new phenotypic variation, but the precise underlying pathogenesis remains to be elucidated. (C) 2015 Published by Elsevier B.V. |
| URI | http://hdl.handle.net/20.500.11897/435178 |
| ISSN | 0960-8966 |
| DOI | 10.1016/j.nmd.2015.12.002 |
| Indexed | SCI(E) PubMed |
| Appears in Collections: | 第一医院 |
