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The diseases of the synaptic vesicles open the way to a new group of neurometabolic diseases

The Inborn Errors of Metabolism (IEM) have normally been considered as the result of errors at the genetic level affecting the biochemical pathways of small molecules such as the neurotransmitters glycine, glutamate, GABA, biogenic amines, etc. The altered concentration of such mole [...]Continue reading

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The MECP2 gene and its role in the Rett syndrome

The Rett syndrome (RTT) is a neurological disorder caused by mutations which occur in the gene MECP2 (methyl-CpG-binding protein 2). This gene is located on the X chromosome, and the RTT affects only females – 1 every 10,000 – because the mutation of MECP2 in males is not viable. However, some isolated cases of boys […]

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Synaptic metabolism course

A course about synaptic metabolism of the Recordati Rare Disease Foundation will be held in Barcelona, Spain, on November 16 – 18, 2017. Participants are expected to have prior knowledge about the field: practical experience with diagnosis treatment, and/or basic research is recommended. Participants are also expected to present a case report relevant to the theme […]

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The gut-brain axis communication and its relationship with the neurological disorders

“We are what we eat”. These well-known words, widely used by nutritionists, date back to Ludwig Feuerbach, a German philosopher of XIX century that focused on the needs of the human body to be properly fed, in contrast with the dominant way of thinking of his age that gave priority to feed the souls. May […]

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2nd Conference on Neurotransmitter Diseases

Next 25th March 2017, “DeNeu“, the Spanish association of neurotransmitter defects, organizes a meeting in Barcelona (see the program here) that will bring together families, medical doctors and researchers. Neurotransmitter disorders are rare diseases that affect brain functioning due to alterations in molecules such as dopamine, serotonin, GABA, glycine, glutamate, serine and others. Neurological symptoms due to these defects are diverse […]

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iNTD Newsletter – February 2017

1) AADC Deficiency Guidelines now online! The AADC deficiency guidelines for the diagnoses, treatment and other special situations are now available online ( We thank all participants and authors for this wonderful collaboration!   2) BH4 Deficiency Guidelines started The next guidelines developed by members of the iNTD network ( will focus on BH4 deficiencies […]

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