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

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 pedi...

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Hauptverfasser: Brun, L. (VerfasserIn) , Ngu, L. H. (VerfasserIn) , Keng, W. T. (VerfasserIn) , Ch'ng, G. S. (VerfasserIn) , Choy, Y. S. (VerfasserIn) , Hwu, W. L. (VerfasserIn) , Lee, W. T. (VerfasserIn) , Willemsen, M. a. a. P. (VerfasserIn) , Verbeek, M. M. (VerfasserIn) , Wassenberg, T. (VerfasserIn) , Régal, L. (VerfasserIn) , Orcesi, S. (VerfasserIn) , Tonduti, D. (VerfasserIn) , Accorsi, P. (VerfasserIn) , Testard, H. (VerfasserIn) , Abdenur, J. E. (VerfasserIn) , Tay, S. (VerfasserIn) , Allen, G. F. (VerfasserIn) , Heales, S. (VerfasserIn) , Kern, I. (VerfasserIn) , Kato, M. (VerfasserIn) , Burlina, A. (VerfasserIn) , Manegold, Claudia (VerfasserIn) , Hoffmann, Georg F. (VerfasserIn) , Blau, N. (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: May 26, 2010
In: Neurology
Year: 2010, Jahrgang: 75, Heft: 1, Pages: 64-71
ISSN:1526-632X
DOI:10.1212/WNL.0b013e3181e620ae
Online-Zugang:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1212/WNL.0b013e3181e620ae
Verlag, lizenzpflichtig, Volltext: https://n.neurology.org/content/75/1/64
Volltext
Verfasserangaben: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
Beschreibung
Zusammenfassung: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.
Beschreibung:Gesehen am 08.03.2023
Beschreibung:Online Resource
ISSN:1526-632X
DOI:10.1212/WNL.0b013e3181e620ae

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