News – Page 3 – intd-online.org

High Throughput Newborn Screening for Aromatic ʟ-amino-acid Decarboxylase Deficiency by Analysis of Concentrations of 3-O-methyldopa From Dried Blood Spots

High Throughput Newborn Screening for Aromatic ʟ-amino-acid Decarboxylase Deficiency by Analysis of Concentrations of 3-O-methyldopa From Dried Blood Spots

High Throughput Newborn Screening for Aromatic ʟ-amino-acid Decarboxylase Deficiency by Analysis of Concentrations of 3-O-methyldopa From Dried Blood Spots Aromatic l ‐amino‐acid decarboxylase (AADC) deficiency is an inherited disorder of biogenic amine metabolism with a broad neurological phenotype. The clinical symptoms overlap with other diseases resulting [...]

By admin|2020-07-06T08:32:52+01:00February 14th, 2020|

34th Annual Meeting of the „Arbeitsgemeinschaft für Pädiatrische Stoffwechselstörungen“ (APS)

34th Annual Meeting of the „Arbeitsgemeinschaft für Pädiatrische Stoffwechselstörungen“ (APS)

34th Annual Meeting of the „Arbeitsgemeinschaft für Pädiatrische Stoffwechselstörungen“ (APS), March 4-7, 2020, Fulda, Germany Dear colleagues, friends, and families, In March 2020 (4-7th March), the 34th Annual Meeting of the „Arbeitsgemeinschaft für Pädiatrische Stoffwechselstörungen“ (APS) will be held in Fulda (Germany) with a focus on [...]

By admin|2019-09-27T12:21:01+01:00September 27th, 2019|

Worldwide rare disease study led by Washington State University researchers

Worldwide rare disease study led by Washington State University researchers

Worldwide rare disease study led by Washington State University researchers Researchers Jean-Baptiste Roullet and Mike Gibson of the WSU College of Pharmacy and Pharmaceutical Sciences are conducting a natural history study of patients with succinic semialdehyde dehydrogenase deficiency (SSADHD). SSADHD is a genetic disorder that is [...]

By admin|2019-03-05T07:40:07+00:00March 5th, 2019|

Families affected by Segawa’s disease perform their first meeting in Spain

Families affected by Segawa’s disease perform their first meeting in Spain

Families affected by Segawa's disease perform their first meeting in Spain The Reina Sofía Hospital in Cordoba hosted the first meeting of families affected by Segawa's disease on Saturday, February 2. The meeting, organized by Neuropediatricians Eduardo López Laso and Joaquín A. Fernández Ramos, addressed the [...]

By admin|2019-02-12T14:44:18+00:00February 12th, 2019|

Relaunch of the iNTD website

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

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

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

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 admin|2020-07-06T08:30:09+01:00July 6th, 2018|

Annual Meeting of the SSADH Defizit e.V.

Annual Meeting of the SSADH Defizit e.V.

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. [...]

By admin|2018-11-08T12:28:34+00:00May 8th, 2018|

2. Treffen der Fachgruppe „Neurotransmitterstörung“

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

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

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