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: | , , , , , , , , , , , , , , , , , , , , , , , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
May 26, 2010
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| 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 
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| 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 |
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| 245 | 1 | 0 | |a Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency |c 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 |
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| 520 | |a 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. | ||
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