Key result
Genetic mutations affecting catecholamine metabolism produce distinct neurochemical patterns that provide important clues to the diagnosis, treatment, and pathophysiology of neurogenetic disorders.
Genetic mutations affecting catecholamine metabolism can provide important diagnostic and therapeutic clues for neurogenetic disorders with autonomic dysfunction.
May guide neurochemical testing in suspected neurogenetic autonomic disorders; leaves open prospective validation of therapeutic impact.
The human genome has become a roadmap for elucidation of the pathophysiology of disease. It is likely that mutations in more than 1000 of the approximately 30,000 human genes will lead to autonomic abnormalities, either directly or indirectly. This review highlights some of these, which exert major effects on catecholamine metabolism and relate specific catecholaminergic phenotypes to neurogenetic disorders. Distinctive catecholamine patterns in several neurogenetic conditions may reflect direct or indirect effects of gene mutations. These neurochemical patterns can provide potentially important clues to the diagnosis, treatment, and pathophysiology of neurogenetic disorders.
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Taneja et al. (2003) conducted a review in Autonomic dysfunction and neurogenetic disorders. Genetic mutations affecting catecholamine metabolism was evaluated. Genetic mutations affecting catecholamine metabolism produce distinct neurochemical patterns that provide important clues to the diagnosis, treatment, and pathophysiology of neurogenetic disorders.
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