biostudies-literaturePearson TSNational Institute of Neurological Disorders and StrokeInstituto de Salud Carlos IIINational Institute for Health Research (NIHR)NINDS NIH HHSRosetreesEuropean Regional Development Fund1121-1130https://www.ebi.ac.uk/biostudies/studies/S-EPMC7540529biostudies-literatureUnknown43(5)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 aJournal of inherited metabolic diseaseAADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients.PMC7540529RP-2016-07-019M375-F1R01 NS094292Garcia-Cazorla AMastrangelo MOppeboen MPearson TSPons RMeeks KDLeuzzi VGilbert LLucke TSykut-Cegielska JFlint LOpladen TMercimek-Andrews SKurian MAJeltsch KTay SKHKato MSteel DManti FfalseAADC 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, 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 a2020-01-01T00:00:00Z2020 Sep2026-05-04T19:58:57.357Z2020-10-29T09:09:50ZS-EPMC75405293236918910.1002/jimd.12247