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:
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Authors | 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 |
Journal | Neurology
(Neurology)
Vol. 75
Issue 1
Pg. 64-71
(Jul 06 2010)
ISSN: 1526-632X [Electronic] United States |
PMID | 20505134
(Publication Type: Comparative Study, Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Biomarkers
- Neurotransmitter Agents
- Aromatic-L-Amino-Acid Decarboxylases
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Topics |
- Adolescent
- Aromatic-L-Amino-Acid Decarboxylases
(cerebrospinal fluid, deficiency)
- Biomarkers
(cerebrospinal fluid)
- Child
- Child, Preschool
- Follow-Up Studies
- Humans
- Infant
- Neurotransmitter Agents
(cerebrospinal fluid, deficiency)
- Young Adult
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