Synonyms
Relevant conditions: Pure autonomic failure; PAF; Idiopathic orthostatic hypotension or Bradbury-Eggleston syndrome; Multiple system atrophy; MSA or Shy-Drager syndrome; Familial dysautonomia or Riley-Day syndrome (FD); Atypical phenylketonuria (PKU) or dihydropteridine (BH4) reductase deficiency; Segawa disease or dopa-responsive dystonia; Tyrosine hydroxylase deficiency (TH); Aromatic L-amino acid decarboxylase (DDC) deficiency; Dopamine β-hydroxylase deficiency DBH; Menkes disease
Definition and Characteristics
Most can be classified as dysautonomias; conditions in which altered function of the autonomic nervous system adversely affects health [1]. Dysautominias range from common transient episodes in otherwise healthy people (e.g., neurocardiogenic syncope), to more rare and severe conditions associated with deficiencies of catecholamines resulting from progressive neurodegenerative diseases (e.g., PAF) or rare genetic disorders involving loss of function of enzymes...
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References
Goldstein DS, Robertson D, Esler M, Straus SE, Eisenhofer G (2002) Dysautonomias: clinical disorders of the autonomic nervous system. Ann Intern Med 137:753–763
Robertson D, Beck C, Gary T, Picklo M (1993) Classification of autonomic disorders. Int Angiol 12:93–102
Kim CH, Zabetian CP, Cubells JF, Cho S, Biaggioni I, Cohen BM, Robertson D, Kim KS (2002) Mutations in the dopamine beta-hydroxylase gene are associated with human norepinephrine deficiency. Am J Med Genet 108:140–147
Goldstein DS, Lenders JW, Kaler SG, Eisenhofer G (1996) Catecholamine phenotyping: clues to the diagnosis, treatment, and pathophysiology of neurogenetic disorders. J Neurochem 67:1781–1790
Pearl PL, Hartka TR, Taylor J (2006) Diagnosis and treatment of neurotransmitter disorders. Curr Treat Options Neurol 8:441–450
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Eisenhofer, G. (2009). Catecholamine Deficiency. In: Lang, F. (eds) Encyclopedia of Molecular Mechanisms of Disease. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-29676-8_297
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DOI: https://doi.org/10.1007/978-3-540-29676-8_297
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