Catecholamine Metabolites in Congenital Sensory Neuropathy with Anhydrosis
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Congenital sensory neuropathy with anhydrosis is a rare syndrome in childhood, characterized by disturbed thermoregulation and by absence of pain and sweating.1,2 The etiology is unknown, but researchers postulate the presence of a disorder in the function of the autonomic sympathetic nervous system.3 From among the numberous etiologies considered to play a role in the pathophysiology of the syndrome, we list a few that are relevant to this report: (1) disturbance of catecholamine metabolism,3 (2) an inborn error of metabolism involving a minor pathway of tyrosine metabolism,4 and (3) low biological activity of nerve growth factor (NGF).5 Clinicians have used urinary catecholamine metabolites in the diagnosis of the syndrome.3
2007 ◽
Vol 151
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pp. 274-284
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1990 ◽
Vol 258
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pp. H107-H112
2018 ◽
Vol 25
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pp. 32-38
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1964 ◽
Vol 39
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pp. 168-171
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