Chronic axonal neuropathy with triosephosphate isomerase deficiency.
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.
Wilmshurst
Jo M
JM
The Institute for Neuromuscular Research, The Children's Hospital at Westmead, Parramatta NSW, Australia.
Wise
Grahame A
GA
Pollard
John D
JD
Ouvrier
Robert A
RA
D001369:Axons / Q000201:enzymology / Q000473:pathology*; D002648:Child; D002908:Chronic Disease; D006801:Humans; D008297:Male; D010523:Peripheral Nervous System Diseases / Q000201:enzymology* / Q000473:pathology*; D014305:Triose-Phosphate Isomerase / Q000172:deficiency*
D014305:Triose-Phosphate Isomerase