8 posts found

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 (https://www.ncbi.nlm.nih.gov/pubmed/28100251). 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 (http://www.intd-online.org) will focus on BH4 deficiencies […]

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AADC deficiency treatment guidelines

Aromatic L-amino acid decarboxylase deficiency (AADCD) is a rare, autosomal recessive neurometabolic disorder that leads to a severe combined deficiency of serotonin, dopamine, norepinephrine and epinephrine. Onset is early in life, and key clinical symptoms are hypotonia, movement disorders (oculogyric crisis, dystonia, and hypokinesia), developmental delay, and autonomic symptoms. In this consensus guideline, representatives of […]

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The lysosome signalization function: new mechanisms of neurological diseases

The role and the fame of the lysosomes in cell metabolism are mainly connected to their well-known activity of “garbage collectors”. They are plenty of hydrolytic enzymes that degrade different types of useless macromolecules, thus generating smaller, simpler basic molecules that can enter once again in the flow of the biochemical pathways of the cells. […]

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DHA: a key omega-3 fatty acid in children brain development

Docosahexaenoic acid (DHA) is a long-chain omega-3 fatty acid naturally present in cold water fatty fish, and in maternal breast milk. DHA is also available in fish oil, in algal supplements, and in fortified milk and eggs. Although DHA can be synthesized from short-chain precursor a-linolenic acid, diet-assumed DHA accumulates more efficiently in erythrocytes, breast […]

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