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Related Experiment Video

Updated: Jul 9, 2025

Chemical Inactivation of the E3 Ubiquitin Ligase Cereblon by Pomalidomide-based Homo-PROTACs

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Citrullinemia type II accompanied by mental derangement combined with multidrug resistance 3 decrease, case report.

Hong Zhao¹, Xia Yu¹, Jinlin Cheng¹

¹State Key Laboratory for Diagnosis and Treatment of Infectious Diseases, National Clinical Research Center for Infectious Diseases, National Medical Center for Infectious Diseases, Collaborative Innovation Center for Diagnosis and Treatment of Infectious Diseases, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, 310003, China.

|November 29, 2023

Summary

This summary is machine-generated.

This study presents a rare case of citrullinemia type II (CTLN2) and multidrug resistance 3 (MDR3) deficiency in a teenage girl. The findings highlight a potential link between MDR3 down-expression and CTLN2, warranting further investigation.

Keywords:

Case report Citrullinemia type II Multidrug resistance 3 Mutation SLC25A13

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Published on: May 12, 2019

Area of Science:

Biochemistry
Genetics
Hepatology

Background:

Citrullinemia type II (CTLN2) is a rare metabolic disorder.
Multidrug resistance 3 (MDR3) deficiency affects bile transport and liver health.
Co-occurrence of CTLN2 and MDR3 deficiency is exceptionally rare.

Observation:

A 17-year-old female presented with mental derangement and was diagnosed with CTLN2.
Liver biopsy revealed significantly reduced hepatic expression of MDR3.
Genetic analysis identified an SLC25A13 mutation (852-855 del) but no ABCB4 mutation.

Findings:

The patient exhibited elevated serum levels of citrulline, homocitrulline, and homoarginine.
A novel association between CTLN2 and MDR3 deficiency was observed in this case.
The absence of ABCB4 mutations suggests MDR3 deficiency is not directly linked to the common cause of MDR deficiency.

Implications:

This case suggests a potential, yet uncharacterized, link between MDR3 down-expression and CTLN2.
Clinicians should consider ruling out CTLN2 in adolescent patients with unexplained mental disorders and liver dysfunction, especially with decreased MDR3.
Further research is needed to elucidate the molecular mechanisms connecting MDR3 deficiency and CTLN2.