Biogenic Amines
摘要
Inherited disorders of dopamine and serotonin metabolisms can be identified by analysis of CSF. HPLC or mass spectrometry can be used to identify potential disorders of dopamine and serotonin metabolisms by determination of the concentration of homovanillic acid and 5-hydroxyindoleacetic acid, respectively. Adherence to strict sampling requirements and the use of age-related reference ranges is essential. Interpretation in conjunction with pterin profiles and other supporting tests can pinpoint a likely diagnosis. Whilst genetic analysis can often confirm a suspected disorder, CSF profiling will also be important with regards to evaluating variants of unknown significance and monitoring treatment responsiveness.