| Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency. | |
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MedLine Citation:
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PMID: 20505134 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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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Authors:
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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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Publication Detail:
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Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't Date: 2010-05-26 |
Journal Detail:
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Title: Neurology Volume: 75 ISSN: 1526-632X ISO Abbreviation: Neurology Publication Date: 2010 Jul |
Date Detail:
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Created Date: 2010-07-06 Completed Date: 2010-07-20 Revised Date: 2010-09-01 |
Medline Journal Info:
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Nlm Unique ID: 0401060 Medline TA: Neurology Country: United States |
Other Details:
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Languages: eng Pagination: 64-71 Citation Subset: AIM; IM |
Affiliation:
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Division of Clinical Chemistry and Biochemistry, University Children's Hospital, Steinwiesstrasse 75, CH-8032 Zürich, Switzerland. . |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Aromatic-L-Amino-Acid Decarboxylases / cerebrospinal fluid*, deficiency* Biological Markers / cerebrospinal fluid Child Child, Preschool Follow-Up Studies Humans Infant Neurotransmitter Agents / cerebrospinal fluid, deficiency Young Adult |
| Chemical | |
Reg. No./Substance:
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0/Biological Markers; 0/Neurotransmitter Agents; EC 4.1.1.28/Aromatic-L-Amino-Acid Decarboxylases |
| Comments/Corrections | |
Comment In:
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Neurology. 2010 Jul 6;75(1):15-7
[PMID:
20534885
]
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Erratum In:
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Neurology. 2010 Aug 10;75(6):576 Note: Dosage error in article text |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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