1. Acute axonal neuropathy in maple syrup urine disease
- Author
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Christopher A. Friedrich, Mark J. Brown, Kleopas A. Kleopa, David M. Raizen, and Shawn J. Bird
- Subjects
medicine.medical_specialty ,Weakness ,Wallerian degeneration ,Exacerbation ,Physiology ,business.industry ,Maple syrup urine disease ,Muscle weakness ,Sural nerve ,medicine.disease ,Gastroenterology ,Surgery ,Cellular and Molecular Neuroscience ,Peripheral neuropathy ,nervous system ,Physiology (medical) ,Internal medicine ,medicine ,Neurology (clinical) ,medicine.symptom ,business ,Branched chain aminoacid - Abstract
A 25-year-old woman with maple syrup urine disease (MSUD) developed generalized weakness over 1 week. She had severe leg and moderate arm weakness, areflexia, and distal sensory loss. Plasma branched-chain amino acid concentrations were elevated, reflecting an acute exacerbation of the disease. Electrodiagnostic studies indicated an acute axonal polyneuropathy and sural nerve biopsy revealed acute wallerian degeneration without inflammation. Peripheral neuropathy, although not identified previously as a clinical feature of MSUD, may become more common as chronic dietary restrictions and improved management of the disease allow survival into adulthood.
- Published
- 2001