Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines Inherited disorders of neurotransmitter metabolism are rare neurodevelopmental diseases presenting with movement disorders and global developmental delay. This study presents the results of the first standardized deep phenotyping approach and describes the clinical and [...]
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 [...]
8th iNTD network meeting 2020 Online We are happy to announce, that the 8th iNTD network meeting will be held on October 1st 2020 from 3 pm - 5:30 pm. Due to the ongoing pandemic, this year's meeting will be held online. A link for the [...]
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, [...]
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 [...]
DIG PKU German Interest Group on Phenylketonuria and Related Inborn Metabolic Disorders - Division for Neurotransmitter Disorders In December 2016 the German DIG PKU Interest Group on Phenylketonuria and Related Inborn Metabolic Disorders created its own Division for Neurotransmitter Disorders. The division wants to to achieve that [...]
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 [...]
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 [...]
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 [...]
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 [...]
