{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Pearson TS"],"funding":["National Institute of Neurological Disorders and Stroke","Instituto de Salud Carlos III","National Institute for Health Research (NIHR)","NINDS NIH HHS","Rosetrees","European Regional Development Fund"],"pagination":["1121-1130"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7540529"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["43(5)"],"pubmed_abstract":["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, and autonomic symptoms. This retrospective study assessed the symptoms and developmental outcome of a large international cohort of patients with AADCD via physician and/or caregiver responses to a detailed, standardized questionnaire. Sixty-three patients (60% female; ages 6 months-36 years, median 7 years; 58 living) from 23 individual countries participated. Common symptoms at onset (median age 3 months, range 0-12 months) were hypotonia, developmental delay, and/or oculogyric crises. Oculogyric crises were present in 97% of patients a"],"journal":["Journal of inherited metabolic disease"],"pubmed_title":["AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients."],"pmcid":["PMC7540529"],"funding_grant_id":["RP-2016-07-019","M375-F1","R01 NS094292"],"pubmed_authors":["Garcia-Cazorla A","Mastrangelo M","Oppeboen M","Pearson TS","Pons R","Meeks KD","Leuzzi V","Gilbert L","Lucke T","Sykut-Cegielska J","Flint L","Opladen T","Mercimek-Andrews S","Kurian MA","Jeltsch K","Tay SKH","Kato M","Steel D","Manti F"],"additional_accession":[]},"is_claimable":false,"name":"AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients.","description":"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, and autonomic symptoms. This retrospective study assessed the symptoms and developmental outcome of a large international cohort of patients with AADCD via physician and/or caregiver responses to a detailed, standardized questionnaire. Sixty-three patients (60% female; ages 6 months-36 years, median 7 years; 58 living) from 23 individual countries participated. Common symptoms at onset (median age 3 months, range 0-12 months) were hypotonia, developmental delay, and/or oculogyric crises. Oculogyric crises were present in 97% of patients a","dates":{"release":"2020-01-01T00:00:00Z","publication":"2020 Sep","modification":"2026-05-04T19:58:57.357Z","creation":"2020-10-29T09:09:50Z"},"accession":"S-EPMC7540529","cross_references":{"pubmed":["32369189"],"doi":["10.1002/jimd.12247"]}}