Crigler-Najjar syndrome type 2: Novel UGT1A1 mutation

Crigler-Najjar syndrome type 2 is a rare cause for persistent unconjugated hyperbilirubinemia, inherited in an autosomal recessive manner. Even though it is compatible with normal life span, in the absence of prompt suspicion and intensive management it can prove fatal not only in the neonatal perio...

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Autores principales: Nair, Karippoth Mohandas, Lohse, Peter, Nampoothiri, Sheela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3491300/
https://www.ncbi.nlm.nih.gov/pubmed/23162302
http://dx.doi.org/10.4103/0971-6866.100776
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author Nair, Karippoth Mohandas
Lohse, Peter
Nampoothiri, Sheela
author_facet Nair, Karippoth Mohandas
Lohse, Peter
Nampoothiri, Sheela
author_sort Nair, Karippoth Mohandas
collection PubMed
description Crigler-Najjar syndrome type 2 is a rare cause for persistent unconjugated hyperbilirubinemia, inherited in an autosomal recessive manner. Even though it is compatible with normal life span, in the absence of prompt suspicion and intensive management it can prove fatal not only in the neonatal period but also during adult life. Here, we describe a case with a novel homozygous UGT1A1 p.Pro176Leu mutation.
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spelling pubmed-34913002012-11-16 Crigler-Najjar syndrome type 2: Novel UGT1A1 mutation Nair, Karippoth Mohandas Lohse, Peter Nampoothiri, Sheela Indian J Hum Genet Case Report Crigler-Najjar syndrome type 2 is a rare cause for persistent unconjugated hyperbilirubinemia, inherited in an autosomal recessive manner. Even though it is compatible with normal life span, in the absence of prompt suspicion and intensive management it can prove fatal not only in the neonatal period but also during adult life. Here, we describe a case with a novel homozygous UGT1A1 p.Pro176Leu mutation. Medknow Publications & Media Pvt Ltd 2012 /pmc/articles/PMC3491300/ /pubmed/23162302 http://dx.doi.org/10.4103/0971-6866.100776 Text en Copyright: © Indian Journal of Human Genetics http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Nair, Karippoth Mohandas
Lohse, Peter
Nampoothiri, Sheela
Crigler-Najjar syndrome type 2: Novel UGT1A1 mutation
title Crigler-Najjar syndrome type 2: Novel UGT1A1 mutation
title_full Crigler-Najjar syndrome type 2: Novel UGT1A1 mutation
title_fullStr Crigler-Najjar syndrome type 2: Novel UGT1A1 mutation
title_full_unstemmed Crigler-Najjar syndrome type 2: Novel UGT1A1 mutation
title_short Crigler-Najjar syndrome type 2: Novel UGT1A1 mutation
title_sort crigler-najjar syndrome type 2: novel ugt1a1 mutation
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3491300/
https://www.ncbi.nlm.nih.gov/pubmed/23162302
http://dx.doi.org/10.4103/0971-6866.100776
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AT nampoothirisheela criglernajjarsyndrometype2novelugt1a1mutation

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