Crigler-Najjar syndrome type I
Enzyme or protein defect
UGT1A1 (absent)
Accumulates or becomes deficient
Unconjugated bilirubin
Key features
Severe neonatal jaundice, kernicterus, death without transplant
Management
Phototherapy, plasmapheresis, liver transplant (type II responds to phenobarbital)
Not clinical guidance. Written from standard clinical biochemistry, not from the uploaded documents, and marked unreviewed. Teaching-level reference for study and database seeding only. It must not be used to manage a patient.
Recent literature
Europe PMC · from cache · sorted by publication date
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1
Crigler-Najjar Syndrome (Type 1) - A Case Report and Review of Literature.
Fard EN, Yasari AA, Sharafeldin A, Fatayerji RN, Al-Obaidi ID, Mazhar M, Noureldin AA, Kar SS, Dube R, Goud B… · 2026-07-01
unreviewed - 2
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3
Liver Transplantation Outcomes in Crigler-Najjar Syndrome in Iran: A Single-Center Retrospective Cohort Study Over 20 Years.
Teimoury S, Beyzaei Z, Shamsaeefar A, Kazemi K, Nikeghbalian S, Malekhosseini SA, Geramizadeh B. · 2026-04-27
open access unreviewed -
4
Living-donor liver transplantation in children with inherited metabolic and genetic cholestatic liver diseases: a single-center retrospective cohort study.
Liu H, Chen Z, Li W, Huxitaer H, Maimaiti G, Maimaijiang A, Jiayilawu Y, Habuding A, Xi R, Wang H, Song F. · 2026-04-30
open access unreviewed -
5
Unclassified Inborn Errors of Immunity Patients without any Pathogenic Variant in Targeted Next-Generation Sequencing: Long-Term Follow-up and Whole Exome Sequencing Results.
Bas I, Topyildiz E, Ulgen E, Sahin P, Tokgoz Erdis G, Durmaz A, Karaca NE, Aksu G, Aykut A, Kutukculer N. · 2026-03-31
open access unreviewed -
6
Carrier rates for recessive monogenic diseases in the Chinese Han population: a systematic review.
Xia Y, Ma Y. · 2026-03-02
open access unreviewed -
7
Genetic spectrum analysis of high-carrier-frequency monogenic disorders based on whole-exome sequencing in the Chinese general population.
Hao N, Lü Y, Bian J, Yin K, Xiao R, Hu P, Peng Y, Huang M, Qiao F, Xiao R, Liu Y, You Y, Jiang Y. · 2026-02-14
open access unreviewed -
8
Expert Consensus on the Diagnosis and Management of Inherited Hyperbilirubinemia (2025).
Zheng S, Xu X, Nan Y, Hou W, Bai J, Tang S, Liang C, Luo L, Wang J, Li X, Zhang M, Deng G, Liu H, Yang Y, Xie… · 2025-12-26
open access unreviewed -
9
A Case Report of Crigler-Najjar Syndrome Type I and Schizophrenia: Exploring the Intersection of Rare Metabolic and Psychiatric Disorders.
Manasrah H, AlQaderi AH, Ali MZ. · 2025-12-10
open access unreviewed -
10
Unfolding the genetic map of monogenic liver diseases in Egypt.
El-Karaksy H, Mogahed EA, Baroudy S, Ghita H, Enayet A, El-Sharkawy M, Radwan NA, Hosny H, Elmonem MA. · 2025-10-30
open access unreviewed
External claims. These come from an index outside this database and are not checked against it. Treat them as leads.