title: Increased HVA detected on organic acid analysis in a patient with Costello syndrome.
abstract: 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.affiliation: Department of Clinical Biochemistry, Bristol Royal Infirmary, Bristol, BS2 8HW, UK. ann.bowron@ubht.swest.nhs.uk
authors.forename: A
authors.initials: A
authors.lastname: Bowron
authors.forename: J G
authors.initials: JG
authors.lastname: Scott
authors.forename: C
authors.initials: C
authors.lastname: Brewer
authors.forename: P
authors.initials: P
authors.lastname: Weir
mesh_terms: D001724:Birth Weight; D009202:Cardiomyopathies / Q000473:pathology; D002395:Catecholamines / Q000378:metabolism; D002658:Developmental Disabilities; D006719:Homovanillic Acid / Q000652:urine*; D006801:Humans; D007223:Infant; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D013577:Syndrome
chemical_list: D002395:Catecholamines; D006719:Homovanillic Acid