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Acute axonal neuropathy in maple syrup urine disease
K A Kleopa1, D M Raizen, C A Friedrich
1Department of Neurology, University of Pennsylvania School of Medicine, 3400 Spruce Street, 3 West Gates, Philadelphia, Pennsylvania 19104-4283, USA. kleopa@mail.med.upenn.edu
Muscle & Nerve
|February 17, 2001
Summary
Maple syrup urine disease (MSUD) can cause acute axonal polyneuropathy, presenting as weakness and sensory loss. This peripheral neuropathy may become more common with improved disease management and patient survival into adulthood.
Area of Science:
- Neurology
- Metabolic Disorders
- Genetics
Background:
- Maple syrup urine disease (MSUD) is a rare inherited metabolic disorder.
- It is characterized by the inability to metabolize branched-chain amino acids (BCAAs).
- While typically presenting in infancy, adult-onset or late-onset forms exist.
Observation:
- A 25-year-old woman with MSUD presented with a week of progressive generalized weakness.
- Clinical examination revealed severe leg and moderate arm weakness, areflexia, and distal sensory loss.
- Elevated plasma BCAA concentrations confirmed an acute exacerbation of MSUD.
Findings:
- Electrodiagnostic studies demonstrated an acute axonal polyneuropathy.
- Sural nerve biopsy showed acute wallerian degeneration without inflammatory changes.
- This indicates a peripheral nerve involvement in MSUD exacerbation.
Implications:
- Peripheral neuropathy is a newly identified clinical feature of MSUD.
- Increased survival into adulthood due to improved management may lead to more frequent observations of neuropathy.
- This finding broadens the understanding of MSUD's clinical spectrum and long-term complications.
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