Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency. 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 [...]
The Recordati Rare Diseases foundation Focus Course on SYNAPTIC METABOLISM AND BRAIN CIRCUITRIES IN IEM: EXPLORING OLD AND NEW DISORDERs is held on 16 - 18 November in Barcelona, Spain. The course will focus on the synapse as a highly specialized structure with specific chemical composition and metabolic functions necessary for an appropriate neuronal communication [...]
The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders. Neurotransmitters are chemical messengers that enable communication between the neurons in the synaptic cleft. Inborn errors of neurotransmitter biosynthesis, breakdown and transport are a group of [...]
