Neurological findings in triosephosphate isomerase deficiency.
Two siblings with hemolytic anemia caused by triosephosphate isomerase deficiency developed a progressive neurological syndrome featuring dystonic movements, tremor, pyramidal tract signs, and evidence of spinal motor neuron involvement. Intelligence was unaffected. The findings in these patients and in 14 previously published cases indicate that neurological manifestations are an integral part of the disorder and suggest that specific structures in the basal ganglia, brainstem, and spinal cord bear the brunt of the pathological process, which does not affect the cerebral cortex.
D000743:Anemia, Hemolytic / Q000150:complications; D002238:Carbohydrate Epimerases / Q000172:deficiency*; D002675:Child, Preschool; D004421:Dystonia / Q000150:complications; D005190:Family; D005260:Female; D006801:Humans; D007223:Infant; D007360:Intelligence; D008297:Male; D009046:Motor Neurons; D009069:Movement Disorders / Q000150:complications; D009123:Muscle Hypotonia / Q000150:complications; D009133:Muscular Atrophy / Q000150:complications; D009410:Nerve Degeneration; D009422:Nervous System Diseases / Q000209:etiology*; D009468:Neuromuscular Diseases / Q000150:complications; D010291:Paresis / Q000150:complications; D013577:Syndrome; D014202:Tremor / Q000150:complications; D014305:Triose-Phosphate Isomerase / Q000172:deficiency*
D002238:Carbohydrate Epimerases; D014305:Triose-Phosphate Isomerase