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Article: In search of the diagnosis, and the patient: transient galactosemia demystified after 14 years

TitleIn search of the diagnosis, and the patient: transient galactosemia demystified after 14 years
Authors
Issue Date2012
PublisherEditions Medecine et Hygiene. The Journal's web site is located at http://www.medhyg.ch/boutique/index.php/medecine-sante/genetic-counseling.html
Citation
Genetic Counseling, 2012, v. 23 n. 3, p. 415-421 How to Cite?
AbstractInfantile galactosemia can be caused by inborn errors of galactose metabolism or other rare causes like Fanconi-Bickel syndrome, congenital porto-systemic shunting and multiple hepatic arterio-venous malformations. All these disease entities are however not commonly seen. We report a case of transient infantile galactosemia who first presented in the 1990s, for which no underlying pathology could be identified despite extensive investigations. The diagnosis had not been apparent until after more than a decade, at that time the patient was lost to contact. Considering the potential diagnosis an important and significant one, efforts were made by the case pathologists and clinicians to search for the patient. Ethical dilemmas were encountered during the search of the patient, which involved issues of patient confidentiality and autonomy, and the doctors' duty-to-care. Modern biochemical and molecular testing confirmed the diagnosis after the patient was finally found. The case illustrates the power of molecular testing to retrospectively diagnose an inherited metabolic disease when biochemical abnormalities have subsided, the value of an accurate and precise diagnosis, and the importance of appropriate genetic counselling in an apparently asymptomatic patient in the era of personalized medicine.
Persistent Identifierhttp://hdl.handle.net/10722/189585
ISSN
2015 Impact Factor: 0.384
2015 SCImago Journal Rankings: 0.204
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorLee, HHCen_US
dc.contributor.authorLam, CWen_US
dc.contributor.authorYuen, YPen_US
dc.contributor.authorLai, CKen_US
dc.contributor.authorChan, KYen_US
dc.contributor.authorChan, AYWen_US
dc.date.accessioned2013-09-17T14:48:02Z-
dc.date.available2013-09-17T14:48:02Z-
dc.date.issued2012en_US
dc.identifier.citationGenetic Counseling, 2012, v. 23 n. 3, p. 415-421en_US
dc.identifier.issn1015-8146en_US
dc.identifier.urihttp://hdl.handle.net/10722/189585-
dc.description.abstractInfantile galactosemia can be caused by inborn errors of galactose metabolism or other rare causes like Fanconi-Bickel syndrome, congenital porto-systemic shunting and multiple hepatic arterio-venous malformations. All these disease entities are however not commonly seen. We report a case of transient infantile galactosemia who first presented in the 1990s, for which no underlying pathology could be identified despite extensive investigations. The diagnosis had not been apparent until after more than a decade, at that time the patient was lost to contact. Considering the potential diagnosis an important and significant one, efforts were made by the case pathologists and clinicians to search for the patient. Ethical dilemmas were encountered during the search of the patient, which involved issues of patient confidentiality and autonomy, and the doctors' duty-to-care. Modern biochemical and molecular testing confirmed the diagnosis after the patient was finally found. The case illustrates the power of molecular testing to retrospectively diagnose an inherited metabolic disease when biochemical abnormalities have subsided, the value of an accurate and precise diagnosis, and the importance of appropriate genetic counselling in an apparently asymptomatic patient in the era of personalized medicine.en_US
dc.languageengen_US
dc.publisherEditions Medecine et Hygiene. The Journal's web site is located at http://www.medhyg.ch/boutique/index.php/medecine-sante/genetic-counseling.htmlen_US
dc.relation.ispartofGenetic Counselingen_US
dc.subject.meshGalactosemias - diagnosis - geneticsen_US
dc.subject.meshGenetic Counselingen_US
dc.subject.meshHumansen_US
dc.subject.meshInfant, Newbornen_US
dc.subject.meshTime Factorsen_US
dc.titleIn search of the diagnosis, and the patient: transient galactosemia demystified after 14 yearsen_US
dc.typeArticleen_US
dc.identifier.emailLee, HHC: hencher@hku.hken_US
dc.identifier.emailLam, CW: ching-wanlam@pathology.hku.hken_US
dc.identifier.emailChan, AYW: a1ywchan@hku.hken_US
dc.identifier.authorityLam, CW=rp00260en_US
dc.identifier.pmid23072191en_US
dc.identifier.hkuros222686en_US
dc.identifier.volume23en_US
dc.identifier.issue3en_US
dc.identifier.spage415en_US
dc.identifier.epage421en_US
dc.identifier.isiWOS:000309851300012-
dc.publisher.placeSwitzerlanden_US

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