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Article: Non-invasive urinary screening for aromatic l-amino acid decarboxylase deficiency in high-prevalence areas: A pilot study

TitleNon-invasive urinary screening for aromatic l-amino acid decarboxylase deficiency in high-prevalence areas: A pilot study
Authors
Issue Date2012
PublisherElsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/cca
Citation
Clinica Chimica Acta, 2012, v. 413 n. 1-2, p. 126-130 How to Cite?
AbstractBackground: 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. © 2011 Elsevier B.V.
Persistent Identifierhttp://hdl.handle.net/10722/148668
ISSN
2015 Impact Factor: 2.799
2015 SCImago Journal Rankings: 1.040
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorLee, HCHen_US
dc.contributor.authorLai, CKen_US
dc.contributor.authorYau, KCEen_US
dc.contributor.authorSiu, TSen_US
dc.contributor.authorMak, CMen_US
dc.contributor.authorYuen, YPen_US
dc.contributor.authorChan, KYen_US
dc.contributor.authorTam, Sen_US
dc.contributor.authorLam, CWen_US
dc.contributor.authorChan, AYWen_US
dc.date.accessioned2012-05-29T06:14:33Z-
dc.date.available2012-05-29T06:14:33Z-
dc.date.issued2012en_US
dc.identifier.citationClinica Chimica Acta, 2012, v. 413 n. 1-2, p. 126-130en_US
dc.identifier.issn0009-8981en_US
dc.identifier.urihttp://hdl.handle.net/10722/148668-
dc.description.abstractBackground: 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. © 2011 Elsevier B.V.en_US
dc.languageengen_US
dc.publisherElsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/ccaen_US
dc.relation.ispartofClinica Chimica Actaen_US
dc.subject.meshAmino Acid Metabolism, Inborn Errors - Diagnosis - Urineen_US
dc.subject.meshAromatic-L-Amino-Acid Decarboxylases - Deficiency - Urineen_US
dc.subject.meshGas Chromatography-Mass Spectrometryen_US
dc.subject.meshHong Kong - Epidemiologyen_US
dc.subject.meshHumansen_US
dc.subject.meshInfanten_US
dc.subject.meshMaleen_US
dc.subject.meshPilot Projectsen_US
dc.subject.meshPrevalenceen_US
dc.titleNon-invasive urinary screening for aromatic l-amino acid decarboxylase deficiency in high-prevalence areas: A pilot studyen_US
dc.typeArticleen_US
dc.identifier.emailLam, CW:ching-wanlam@pathology.hku.hken_US
dc.identifier.authorityLam, CW=rp00260en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1016/j.cca.2011.09.008en_US
dc.identifier.pmid21963339en_US
dc.identifier.scopuseid_2-s2.0-82955213063en_US
dc.identifier.hkuros201624-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-82955213063&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume413en_US
dc.identifier.issue1-2en_US
dc.identifier.spage126en_US
dc.identifier.epage130en_US
dc.identifier.isiWOS:000298462400019-
dc.publisher.placeNetherlandsen_US
dc.identifier.citeulike9830637-

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