Document Detail

Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency.
MedLine Citation:
PMID:  20505134     Owner:  NLM     Status:  MEDLINE    
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.
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:
Type:  Comparative Study; Journal Article; Research Support, Non-U.S. Gov't     Date:  2010-05-26
Journal Detail:
Title:  Neurology     Volume:  75     ISSN:  1526-632X     ISO Abbreviation:  Neurology     Publication Date:  2010 Jul 
Date Detail:
Created Date:  2010-07-06     Completed Date:  2010-07-20     Revised Date:  2010-09-01    
Medline Journal Info:
Nlm Unique ID:  0401060     Medline TA:  Neurology     Country:  United States    
Other Details:
Languages:  eng     Pagination:  64-71     Citation Subset:  AIM; IM    
Division of Clinical Chemistry and Biochemistry, University Children's Hospital, Steinwiesstrasse 75, CH-8032 Zürich, Switzerland. .
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MeSH Terms
Aromatic-L-Amino-Acid Decarboxylases / cerebrospinal fluid*,  deficiency*
Biological Markers / cerebrospinal fluid
Child, Preschool
Follow-Up Studies
Neurotransmitter Agents / cerebrospinal fluid,  deficiency
Young Adult
Reg. No./Substance:
0/Biological Markers; 0/Neurotransmitter Agents; EC Decarboxylases
Comment In:
Neurology. 2010 Jul 6;75(1):15-7   [PMID:  20534885 ]
Erratum In:
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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