Sensory neuropathy as a manifestation of multiple acyl-coenzyme A dehydrogenase deficiency.

Autor:	Harding JN; University of Cambridge School of Clinical Medicine, Cambridge, UK jh2215@cam.ac.uk., Mohannak N; The University of Notre Dame Australia School of Medicine, Fremantle, Australia., Georgieva Z; University of Cambridge Department of Clinical Neurosciences, Cambridge, UK., Cunniffe NG; Clinical Neurosciences, University of Cambridge, Cambridge, UK.
Jazyk:	angličtina
Zdroj:	BMJ case reports [BMJ Case Rep] 2024 Mar 15; Vol. 17 (3). Date of Electronic Publication: 2024 Mar 15.
DOI:	10.1136/bcr-2023-259192
Abstrakt:	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. Early diagnostic workup with acylcarnitine profiling and organic acid analysis was critical in patient outcome; metabolic decompensation and myopathic symptoms were completely reversed with riboflavin supplementation and dietary modification, although sensory neuropathy persisted. Clinical consideration of MADD as part of the differential diagnosis of neuropathy with myopathy is crucial for a timely diagnosis and treatment of MADD. Competing Interests: Competing interests: None declared. (© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.)
Databáze:	MEDLINE
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