Severe sensory neuropathy in patients with adult-onset multiple acyl-CoA dehydrogenase deficiency

摘要: 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 dramatic responsiveness to riboflavin treatment. Abnormalities peripheral neuropathy have rarely been reported in MADD. We describe six who presented proximal limb weakness and loss sensation the distal limbs. Muscle biopsy revealed typical myopathological patterns blood acylcarnitine profiles showed a combined elevation multiple acylcarnitines supporting diagnosis However, nerve conduction investigations sural biopsies these indicated severe axonal sensory neuropathy. Causative ETFDH gene mutations were found all cases. No other causative identified mitochondrial DNA genes associated hereditary neuropathies through next-generation-sequencing panel. Late-onset can present muscle neuropathy, which might be new phenotypic variation, but precise underlying pathogenesis remains elucidated.