Article
Sensory neuropathy as a manifestation of multiple acyl-coenzyme A dehydrogenase deficiency.
BMJ case reports - 15 Mar 2024
Harding Jessica N, Mohannak Nika, Georgieva Zoya, Cunniffe Nicholas G
Abstract excerpt
Multiple acyl-coenzyme A dehydrogenase deficiency (MADD) is a rare metabolic disorder which typically manifests with muscle weakness. However, despite late-onset MADD being treatable, it is often misdiagnosed, due in part to the heterogeneity of presentations. We report a case of late-onset MADD manifesting first as a sensory neuropathy before progressing to myopathic symptoms and acute metabolic decompensation....
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