Inherited Disorders Affecting Dopamine and Serotonin: Critical Neurotransmitters Derived from Aromatic Amino Acids

摘要: Many inherited disorders affecting aromatic amino acid metabolism have been described. This review will concentrate on the defects that lead to deficiencies of dopamine and serotonin within central nervous system. Phenylalanine hydroxylase, tyrosine tryptophan hydroxylase all require tetrahydrobiopterin (BH4) as a cofactor. Inherited reduce concentration BH4, therefore, in general, phenylketonuria serotonin, are rate-limiting enzymes required for synthesis these neurotransmitters. Primary L-amino decarboxylase also The clinical phenotypes very similar those observed patients with BH4 metabolism. Differential diagnosis is critical treatment different each disorders. To date, primary deficiency has not described; when it finally is, phenotype might surprise us, many groups around world searching such defect long time.