Crigler-Najjar syndrome type II: A rare case report of a young adult

Crigler-Najjar syndrome is a rare autosomal recessive disorder caused by mutations in the coding region of UGT1A1 gene resulting in grossly reduced hepatic activity of glucuronyl transferase. Absence or decrease activity of this enzyme leads to accumulation of unconjugated bilirubin in the body causes unconjugated hyperbilirubinemia.

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Publication Details

Journal
Journal of Clinical Images and Medical Case Reports
Published
2025-02-28
DOI
https://doi.org/10.52768/2766-7820/3461
Primary Topic
Neonatal Health and Biochemistry
Type
article
Field-Weighted Citation Impact
0.00
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article

Crigler-Najjar syndrome type II: A rare case report of a young adult

Mohammad Abu Faisal
Journal of Clinical Images and Medical Case Reports
Neonatal Health and Biochemistry
article

Crigler-Najjar syndrome type II: A rare case report of a young adult

Mohammad Abu Faisal
article en

Abstract

Crigler-Najjar syndrome is a rare autosomal recessive disorder caused by mutations in the coding region of UGT1A1 gene resulting in grossly reduced hepatic activity of glucuronyl transferase. Absence or decrease activity of this enzyme leads to accumulation of unconjugated bilirubin in the body causes unconjugated hyperbilirubinemia.

Journal of Clinical Images and Medical Case ReportsVol. 6(2)
Openalex Percentile: Top 79%
Neonatal Health and Biochemistry
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Crigler-Najjar syndrome type II: A rare case report of a young adult — Mohammad Abu Faisal · Journal of Clinical Images and Medical Case Reports (2025) | TGRS Research Map | TGRS