Inborn errors of (synaptic) neurotransmission After last year's APS Annual Meeting had to be cancelled at short notice due to the Covid.Pandemic and planning was also difficult in 2021, it is now a special pleasure for us to invite you to the APS Annual Meeting in [...]

By |2021-06-17T08:36:44+01:00June 17th, 2021|

AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients

AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients Aromatic L‐amino acid decarboxylase deficiency (AADCD) is a rare, autosomal recessive neurodevelopmental disorder characterized by impaired synthesis of dopamine, noradrenaline, adrenaline and serotonin, leading to a complex syndrome of motor, behavioral, [...]

By |2020-07-06T08:26:48+01:00July 6th, 2020|

Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies

Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies Tetrahydrobiopterin (BH4) deficiencies comprise a group of six rare neurometabolic disorders characterized by insufficient synthesis of the monoamine neurotransmitters dopamine and serotonin due to a disturbance of BH4 biosynthesis or recycling. Hyperphenylalaninemia (HPA) is the [...]

By |2020-07-06T08:23:40+01:00July 6th, 2020|

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

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|
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