Document Detail


Increased HVA detected on organic acid analysis in a patient with Costello syndrome.
MedLine Citation:
PMID:  16435215     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Urine organic acid analysis is routinely performed to investigate inborn errors of metabolism; however, interpretation can be difficult owing to the detection of compounds derived from other disease states or from nonpathological causes. We describe the finding of elevated homovanillc acid (HVA) on urine organic acid analysis which was not associated with medication or a neuroendocrine tumour but with Costello syndrome.
Authors:
A Bowron; J G Scott; C Brewer; P Weir
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of inherited metabolic disease     Volume:  28     ISSN:  0141-8955     ISO Abbreviation:  J. Inherit. Metab. Dis.     Publication Date:  2005  
Date Detail:
Created Date:  2006-01-25     Completed Date:  2006-07-05     Revised Date:  2007-03-21    
Medline Journal Info:
Nlm Unique ID:  7910918     Medline TA:  J Inherit Metab Dis     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  1155-6     Citation Subset:  IM    
Affiliation:
Department of Clinical Biochemistry, Bristol Royal Infirmary, Bristol, BS2 8HW, UK. ann.bowron@ubht.swest.nhs.uk
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MeSH Terms
Descriptor/Qualifier:
Birth Weight
Cardiomyopathies / pathology
Catecholamines / metabolism
Developmental Disabilities
Homovanillic Acid / urine*
Humans
Infant
Male
Metabolism, Inborn Errors / diagnosis*
Syndrome
Chemical
Reg. No./Substance:
0/Catecholamines; 306-08-1/Homovanillic Acid

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


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