Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency

• Verfasst von: Brun, L. [VerfasserIn]
• Verfasst von: Ngu, L. H. [VerfasserIn]
• Verfasst von: Keng, W. T. [VerfasserIn]
• Verfasst von: Ch'ng, G. S. [VerfasserIn]
• Verfasst von: Choy, Y. S. [VerfasserIn]
• Verfasst von: Hwu, W. L. [VerfasserIn]
• Verfasst von: Lee, W. T. [VerfasserIn]
• Verfasst von: Willemsen, M. a. a. P. [VerfasserIn]
• Verfasst von: Verbeek, M. M. [VerfasserIn]
• Verfasst von: Wassenberg, T. [VerfasserIn]
• Verfasst von: Régal, L. [VerfasserIn]
• Verfasst von: Orcesi, S. [VerfasserIn]
• Verfasst von: Tonduti, D. [VerfasserIn]
• Verfasst von: Accorsi, P. [VerfasserIn]
• Verfasst von: Testard, H. [VerfasserIn]
• Verfasst von: Abdenur, J. E. [VerfasserIn]
• Verfasst von: Tay, S. [VerfasserIn]
• Verfasst von: Allen, G. F. [VerfasserIn]
• Verfasst von: Heales, S. [VerfasserIn]
• Verfasst von: Kern, I. [VerfasserIn]
• Verfasst von: Kato, M. [VerfasserIn]
• Verfasst von: Burlina, A. [VerfasserIn]
• Verfasst von: Manegold, Claudia [VerfasserIn]
• Verfasst von: Hoffmann, Georg F. [VerfasserIn]
• Verfasst von: Blau, N. [VerfasserIn]
• Titel: Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency
• Verf.angabe: L. Brun, L.H. Ngu, W.T. Keng, G.S. Ch'ng, Y.S. Choy, W.L. Hwu, W.T. Lee, M.a.a.P. Willemsen, M.M. Verbeek, T. Wassenberg, L. Régal, S. Orcesi, D. Tonduti, P. Accorsi, H. Testard, J.E. Abdenur, S. Tay, G.F. Allen, S. Heales, I. Kern, M. Kato, A. Burlina, C. Manegold, G.F. Hoffmann, N. Blau
• E-Jahr: 2010
• Jahr: May 26, 2010
• Umfang: 8 S.
• Fussnoten: Gesehen am 08.03.2023
• Titel Quelle: Enthalten in: Neurology
• Ort Quelle: Philadelphia, Pa. : Wolters Kluwer, 1951
• Jahr Quelle: 2010
• Band/Heft Quelle: 75(2010), 1, Seite 64-71
• ISSN Quelle: 1526-632X
• DOI: doi:10.1212/WNL.0b013e3181e620ae
• Datenträger: Online-Ressource
• Sprache: eng
• K10plus-PPN: 1838577343

Abstract

Objective: To describe the current treatment; clinical, biochemical, and molecular findings; and clinical follow-up of patients with aromatic l-amino acid decarboxylase (AADC) deficiency. - Method: Clinical and biochemical data of 78 patients with AADC deficiency were tabulated in a database of pediatric neurotransmitter disorders (JAKE). A total of 46 patients have been previously reported; 32 patients are described for the first time. - Results: In 96% of AADC-deficient patients, symptoms (hypotonia 95%, oculogyric crises 86%, and developmental retardation 63%) became clinically evident during infancy or childhood. Laboratory diagnosis is based on typical CSF markers (low homovanillic acid, 5-hydroxyindoleacidic acid, and 3-methoxy-4-hydroxyphenolglycole, and elevated 3-O-methyl-l-dopa, l-dopa, and 5-hydroxytryptophan), absent plasma AADC activity, or elevated urinary vanillactic acid. A total of 24 mutations in the DDC gene were detected in 49 patients (8 reported for the first time: p.L38P, p.Y79C, p.A110Q, p.G123R, p.I42fs, c.876G>A, p.R412W, p.I433fs) with IVS6+ 4A>T being the most common one (allele frequency 45%). - Conclusion: Based on clinical symptoms, CSF neurotransmitters profile is highly indicative for the diagnosis of aromatic l-amino acid decarboxylase deficiency. Treatment options are limited, in many cases not beneficial, and prognosis is uncertain. Only 15 patients with a relatively mild form clearly improved on a combined therapy with pyridoxine (B6)/pyridoxal phosphate, dopamine agonists, and monoamine oxidase B inhibitors.