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Biochemical diagnosis of dopaminergic disturbances in paediatric patients: Analysis of cerebrospinal fluid homovanillic acid and other biogenic amines by Isaac Marín-Valencia; Mercedes Serrano; Aida Ormazabal; Belén Pérez-Dueñas; Angels García-Cazorla; Jaume Campistol; Rafael Artuch is a Medicine article available to read on EtoBox.
What is Biochemical diagnosis of dopaminergic disturbances in paediatric patients: Analysis of cerebrospinal fluid homovanillic acid and other biogenic amines about?
Homovanillic acid (HVA) is a major catabolite of dopamine. Its concentration in cerebrospinal fluid (CSF) provides insight into the turnover of dopamine. Our main purpose in this review was to analyze the role played by HVA determination in CSF as a diagnostic and prognostic tool in diseases that directly or indirectly affect the dopaminergic pathway in paediatric patients. There are several rare genetic diseases related with dopamine metabolism disturbances, both in the biosynthesis and catabolism of this neurotransmitter, so that diagnosis is often a major challenge. Decreased concentrations of CSF HVA, together with defects in other biogenic amine metabolites, are the hallmark of dopamine deficiency, and they may provide not only a clue for diagnosis but also information about prognosis and treatment monitoring. Concerning secondary deficiencies, genetic and non-genetic conditions have been identified as the cause of low CSF HVA concentrations, and the variability of clinical presentation and pathophysiological mechanisms is wide. As to CSF HVA analysis, lumbar puncture following a strict protocol has been applied for diagnosis of paediatric neurotransmitter diseases. Among labo
Who reads Biochemical diagnosis of dopaminergic disturbances in paediatric patients: Analysis of cerebrospinal fluid homovanillic acid and other biogenic amines?
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- Author
- Isaac Marín-Valencia; Mercedes Serrano; Aida Ormazabal; Belén Pérez-Dueñas; Angels García-Cazorla; Jaume Campistol; Rafael Artuch
- Publisher
- Elsevier Science; Elsevier ; Elsevier BV (ISSN 0009-9120)
- Published
- 2008
- Language
- EN
- Field
- Medicine (Health Sciences)