title: Aromatic L-amino acid decarboxylase deficiency: an extrapyramidal movement disorder with oculogyric crises.
abstract: Aromatic L-amino acid decarboxylase (AADC) deficiency results in an impaired synthesis of catecholamines and serotonin, and has been reported only in two middle eastern families. We report on a European family with an affected child. The child showed the characteristic clinical picture of an extrapyramidal movement disorder, oculogyric crises and vegetative symptoms seen in the three patients described previously. Treatment with a combination of the AADC cofactor pyridoxine, the monoamine oxidase B inhibitor selegiline and bromocriptine was started during the fifth year of life and showed only a moderate clinical improvement in contrast to patients who have been treated since the first year of life.
authors.affiliation: Department of Paediatrics and Neuropaediatrics, University of Göttingen, Germany.
authors.forename: G C
authors.initials: GC
authors.lastname: Korenke
authors.forename: H J
authors.initials: HJ
authors.lastname: Christen
authors.forename: K
authors.initials: K
authors.lastname: Hyland
authors.forename: D H
authors.initials: DH
authors.lastname: Hunneman
authors.forename: F
authors.initials: F
authors.lastname: Hanefeld
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics*; D001142:Aromatic-L-Amino-Acid Decarboxylases / Q000172:deficiency* / Q000235:genetics; D001480:Basal Ganglia Diseases / Q000175:diagnosis / Q000235:genetics*; D002675:Child, Preschool; D003937:Diagnosis, Differential; D004200:Diseases in Twins / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D009460:Neurologic Examination; D015835:Ocular Motility Disorders / Q000175:diagnosis / Q000235:genetics*
chemical_list: D001142:Aromatic-L-Amino-Acid Decarboxylases