Tyrosinemia type I--diagnostic issues and prenatal diagnosis.

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dc.contributor.authorBijarnia, Sunitaen_US
dc.contributor.authorPuri, Ratna Den_US
dc.contributor.authorRuel, Jeanen_US
dc.contributor.authorGray, George Fen_US
dc.contributor.authorJenkinson, Lindaen_US
dc.contributor.authorVerma, Ishwar Cen_US
dc.date.accessioned2006-02-04en_US
dc.date.accessioned2009-05-30T15:07:19Z
dc.date.available2006-02-04en_US
dc.date.available2009-05-30T15:07:19Z
dc.date.issued2006-02-04en_US
dc.description.abstractA fifteen-month-old boy, born to consanguineously married couple, presented with asymptomatic hepatomegaly. Investigations revealed mildly deranged liver functions, necroinflammatory changes and cirrhosis on liver biopsy, a markedly raised alpha feto protein and tyrosine levels in plasma and a generalized aminoaciduria. His diagnosis of hereditary tyrosinemia was established on findings of raised serum and urine succinylacetone and a deficient activity of fumaryl acetoacetate hydroxylase enzyme. Prenatal diagnosis of hereditary tyrosinemia was performed in a subsequent pregnancy in this family from India.en_US
dc.description.affiliationDepartment of Genetic Medicine, Sir Ganga Ram Hospital, New Delhi, India.en_US
dc.identifier.citationBijarnia S, Puri RD, Ruel J, Gray GF, Jenkinson L, Verma IC. Tyrosinemia type I--diagnostic issues and prenatal diagnosis. Indian Journal of Pediatrics. 2006 Feb; 73(2): 163-5en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/83314
dc.language.isoengen_US
dc.source.urihttps://medind.nic.in/icb/icbai.shtmlen_US
dc.subject.meshConsanguinityen_US
dc.subject.meshFemaleen_US
dc.subject.meshGenetic Counselingen_US
dc.subject.meshHumansen_US
dc.subject.meshInfanten_US
dc.subject.meshMaleen_US
dc.subject.meshPregnancyen_US
dc.subject.meshPrenatal Diagnosisen_US
dc.subject.meshTyrosinemias --diagnosisen_US
dc.titleTyrosinemia type I--diagnostic issues and prenatal diagnosis.en_US
dc.typeCase Reportsen_US
dc.typeJournal Articleen_US
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