作者: Keith Hyland
DOI: 10.1002/ANA.10627
关键词:
摘要: The investigation of infants and children with suspected pediatric neurotransmitter diseases affecting serotonin catecholamine metabolism is complicated because the measurement metabolites in peripheral fluids generally uninformative. Disorders that affect (dopamine norepinephrine) neurotransmission, do not present hyperphenylalaninemia, require a lumbar puncture be performed specific assessed collected cerebrospinal fluid. This review will discuss disorders biosynthesis, sample collection handling, diagnostic methods expected profiles, problems diagnosis, as yet to described conditions might detected using current methodologies.