Research Groups

Neurometabolic disorders with expression in the Central Nervous System


Coordinators of the group

  • Àngels García-Cazorla

We have been studying these metabolic disorders since 2003 while collaborating with various centres in Spain, Portugal, Greece, Argentina, Turkey and India, among other countries. We basically study dopamine and serotonin disorders and, since quite recently, GABA disorders. From the clinical standpoint, patients show severe encephalopathies that are detected by the specific study of this neurotransmitter in cerebrospinal fluid (CSF). Our main goal is diagnosis with a very strong focus on therapy since many of these disorders have a treatment that can improve or normalise the patient's clinical condition. Likewise, our translational research presents some interesting aspects, including the incorporation of studies on CSF proteomics and on cell lines with deficiencies involving tyrosine hydroxylase (a rate-limiting enzyme in dopamine synthesis), which are analysed by different cell biology and electrophysiology techniques. We have been able to include these new procedures in our research thanks to the establishment in recent years of our laboratory for the study of neuron synapses in paediatric neurologic disorders, primarily conceived for research on synaptic metabolism.

Consequently, we are working most actively in this research line on the following aspects:

  • Study of neurotransmitters (dopamine, serotonin and GABA) and pterins: primary and secondary changes.
  • Analysis of synaptic proteins and neuronal growth factors.
  • Cell model of tyrosine hydroxylase disorder.