Pregnancy management and outcome in patients with four different tetrahydrobiopterin disorders Introduction Inborn errors of tetrahydrobiopterin (BH4) biosynthesis or recycling are a group of very rare neurometabolic diseases. Following growing awareness and improved availability of drug treatment the number of patients with BH4 disorders reaching adulthood [...]
Inherited Disorders of Neurotransmitters: Classification and Practical Approaches for Diagnosis and Treatment Neurotransmitter deficiencies are rare neurological disorders with clinical onset during childhood. The disorders are caused by genetic defects in the enzymes involved in synthesis, degradation, or transport of neurotransmitters or by defects in the [...]
Annual Meeting of the SSADH Defizit e.V. On the 19th of May 2018 the SSADH Defizit e.V. hold it´s annual meeting in Cologne. Participates were informed about the ongoing activities, offered advice on social matters and research topics that are supported by the association were presented. [...]
Das 2. Treffen der Patienten-/ Eltern Vereinigung „Fachgruppe Neurotransmitterstörung“ unter dem Dachverband DIG PKU (Deutsche Interessengemeinschaft Phenylketonurie) findet am Samstag, den 30.06.2018 von 14:00 Uhr bis 16:10 Uhr in Heidelberg statt. https://www.dig-pku.de/calendar/index.php?event/106-2-treffen-der-fachgruppe-neutransmitterst%C3%B6rungen-in-der-universit%C3%A4tsklinik-heide/ Eine Teilnahme ist auch ohne Mitgliedschaft im Verein möglich. Wer teilnehmen möchte, wendet sich bitte an den Ansprechpartner Kai Meuer (This email address is being [...]
The first parent and patient organization within Germany for disorders that are affecting the neurotransmitter metabolism was founded recently within the framework of the DIG PKU. The group aims to improve the situation of families affected by these rare diseases and to bring them together for an exchange of their experiences. The group can be [...]
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 [...]
