Nonketotic hyperglycinemia (NKH) is a rare genetic disorder caused by a defect in the machinery for the breakdown of the amino acid glycine . Above all, it is a very complex disease, since it does not affect all the patients the same way. Because of the huge differences observed in the outcome, researchers from United […]
29 posts found
Neuropaediatric diseases and synapsis
A mouse model for type B tyrosine hydroxilase deficiency
Tyrosine Hydroxylase Deficiency (THD) is an inborn error of dopamine synthesis. Around 70 cases of THD have been identified so far, with manifestations ranging from mild movement disorder to encephalopathy with parkinsonism. Based on the clinical signs observed, two main forms have been described. Type A has a more attenuated phenotype and it is normally […]
Mitochondrial disorders: impaired neurotransmission and seizures
Seizure are frequent symptoms of inborn errors of metabolism. In particular, 26–60% of all mitochondrial disorders occur with epilepsy, and 169 genetic mutations affected mitochondrial function have been associated to seizures. Dr. Zsurka and Dr. S Kunz from Bonn University, Germany, proposed an accurate review, recently published in the journal Lancet Neurology, of the relationship […]
Neurotransmitter focused course
Course of the Recordati Rare Diseases Foundation This course is aimed at clinicians with a basic knowledge of inborn errors of neurotransmitter, pterin and folate metabolisms who are working a metabolic or child neurology clinic. Both adult and childhood disease will be covered so it is suitable for practitioners in both areas. This course is […]
B-Debate “Connecting the Growing Brain”
“Connecting the growing brain” is a workshop that belong to the B-Debate series. It will take place in November 26 and 27 at the Science Museum of Barcelona. Clinicians and researchers from different countries in Europe and from the USA will meet to discuss about mechanisms of neurotransmission and synaptic communication in neuropaediatric disorders. We […]
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