Document Detail

Non-invasive urinary screening for aromatic l-amino acid decarboxylase deficiency in high-prevalence areas: A pilot study.
MedLine Citation:
PMID:  21963339     Owner:  NLM     Status:  Publisher    
BACKGROUND: The diagnosis of aromatic l-amino acid decarboxylase (AADC) deficiency, one of the pediatric neurotransmitter disorders, is classically made with plasma enzyme level or cerebrospinal fluid (CSF) neurotransmitter profile, while both are technically demanding and the latter requires the invasive lumbar puncture. So far less than 100 cases have been reported worldwide with 20% from Taiwan. It was postulated that the condition might have been under-diagnosed among Chinese populations and a non-invasive screening tool should be developed in areas with high prevalence. METHODS: Urine metabolic profiles performed by gas chromatography-mass spectrometry (GC-MS) in a 31-month period were retrospectively reviewed: those with vanilmandelic acid concentration lower than one percentile plus the presence of 3-o-methyldopa were defined as positive and the patients were further evaluated. RESULTS: Among 1046 metabolic profiles (from 845 patients) reviewed, 3 profiles from 2 patients were screened positive: both cases had compatible CSF neurotransmitter profiles and the diagnosis was further confirmed by genetic analysis of DDC gene. 13 negative urinary metabolic profiles from 7 patients who had CSF neurotransmitters analyzed were identified as controls: all 7 CSF neurotransmitter profiles were not compatible for AADC deficiency. CONCLUSIONS: The GC-MS-based urine metabolic profiling was shown to be a satisfactory screening tool for AADC deficiency. Further confirmation can be performed by mutation analysis in the DDC gene, thus avoiding risks of lumbar puncture. We advocate all ethnic Chinese patients presenting with dystonia have their urine organic acids analyzed before proceeding to CSF neurotransmitters analysis.
Han-Chih Hencher Lee; Chi-Kong Lai; Kin-Cheong Eric Yau; Tak-Shing Siu; Chloe Miu Mak; Yuet-Ping Yuen; Kwok-Yin Chan; Sidney Tam; Ching-Wan Lam; Albert Yan-Wo Chan
Related Documents :
7979219 - Very long chain fatty acids in x-linked adrenoleukodystrophy brain after treatment with...
18600579 - The emerging role of docosahexaenoic acid in neuroinflammation.
7533019 - Effect of alpha-linolenic acid on the metabolism of omega-3 and omega-6 polyunsaturated...
10472949 - Plasma fatty acid composition and 6-year incidence of hypertension in middle-aged adult...
18833999 - Chemical composition and fatty acid profile of rhea (rhea americana) meat.
8656069 - Fatty acid composition of brain capillary endothelial cells: effect of the coculture wi...
6201199 - Single-channel studies on linear gramicidins with altered amino acid sequences. a compa...
22063769 - Comparison of six crossbred lamb types: sensory, physical and nutritional meat quality ...
1940629 - Selective reduction of oxo bile acids: synthesis of 3 beta-, 7 beta-, and 12 beta-hydro...
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-9-21
Journal Detail:
Title:  Clinica chimica acta; international journal of clinical chemistry     Volume:  -     ISSN:  1873-3492     ISO Abbreviation:  -     Publication Date:  2011 Sep 
Date Detail:
Created Date:  2011-10-3     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  1302422     Medline TA:  Clin Chim Acta     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2011 Elsevier B.V. All rights reserved.
Department of Pathology, Princess Margaret Hospital, Hong Kong, China.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Fate of metals contained in waste electrical and electronic equipment in a municipal waste treatment...
Next Document:  Facile syntheses of the disaccharide repeating unit of the O-antigenic polysaccharide of Burkholderi...