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Chronic axonal neuropathy with triosephosphate isomerase deficiency
Jo M Wilmshurst1, Grahame A Wise, John D Pollard
1The Institute for Neuromuscular Research, The Children's Hospital at Westmead, Parramatta NSW, Australia.
Pediatric Neurology
|February 27, 2004
Abstract:
A patient with triosephosphate isomerase deficiency resulting from compound heterozygote mutation is described. Chronic axonal neuropathy was identified on clinical and neurophysiologic grounds and confirmed by sural nerve biopsy. This report describes the first biopsy-proven case confirming that peripheral neuropathy can occur with triosephosphate isomerase deficiency.