Bioanalytical validation and clinical application of a liquid chromatography-tandem mass spectrometry method for the quantification of 3-orthomethyldopa, 5-hydroxytryptophan, 5-hydroxyindolacetic acid and homovanillic acid in human cerebrospinal fluid.

Inherited disorders of monoamine neurotransmitters are a subset of inborn errors of metabolism affecting biochemical pathways of catecholamines, serotonin or their enzymatic cofactors. Usually, their clinical presentation is similar to those of other common neurological syndromes. For this reason, they are frequently under-recognized and misdiagnosed.