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Relaunch of the iNTD website

Relaunch of the iNTD website Walt Disney once said: "We keep moving forward, opening new doors, and doing new things, because we're curious and curiosity keeps leading us down new paths." We thought to do the same and take the new iNTD website online. You can [...]

By |2018-11-08T15:25:04+00:00November 8th, 2018|

Inherited Disorders of Neurotransmitters: Classification and Practical Approaches for Diagnosis and Treatment

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 [...]

By |2018-11-07T16:34:40+00:00November 7th, 2018|

New publication online: 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 cofactor biosynthesis such as tetrahydrobiopterin (BH4). With the newly described DNAJC12 deficiency, a chaperon-associated neurotransmitter disorder, the pathophysiological spectrum has been [...]

By |2018-11-08T12:09:14+00:00October 29th, 2018|

Pregnancy management and outcome in patients with four different tetrahydrobiopterin disorders

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 [...]

By |2018-10-25T15:54:31+00:00October 25th, 2018|

2. Treffen der Fachgruppe „Neurotransmitterstörung“

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 [...]

By |2018-11-08T08:41:29+00:00May 2nd, 2018|

New Patient and parent group for neurotransmitter related disorders founded in Germany

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 [...]

By |2018-11-08T08:43:00+00:00March 1st, 2018|

Consensus guideline for the diagnosis and tTreatment of aromatic l-amino acid decarboxylase (AADC) deficiency

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 [...]

By |2018-11-08T12:03:22+00:00November 8th, 2017|

Recordati Course on SYNAPTIC METABOLISM AND BRAIN CIRCUITRIES IN IEM: EXPLORING OLD AND NEW DISORDERS

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 [...]

By |2018-11-08T08:44:18+00:00July 19th, 2017|

The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders

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 [...]

By |2018-11-08T12:07:26+00:00December 8th, 2016|