| CASE REPORT |
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| Year : 2012 | Volume
: 18
| Issue : 2 | Page : 233-234 |
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Crigler-Najjar syndrome type 2: Novel UGT1A1 mutation
Karippoth Mohandas Nair1, Peter Lohse2, Sheela Nampoothiri3
1 Department of Pediatrics, Medical College, Calicut, Kerala, India
2 Department of Clinical Chemistry, Molecular Genetics Laboratory, University of Munich Marchioninistr - 15, D - 81377, Munich, Germany
3 Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Center, AIMS Ponekkara PO, Cochin, Kerala, India
Correspondence Address:
Sheela Nampoothiri
Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Center, AIMS Ponekkara PO, Cochin - 682041, Kerala
India
 Source of Support: None, Conflict of Interest: None  | 2 |
DOI: 10.4103/0971-6866.100776
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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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