Related Experiment Video
Updated: Oct 25, 2025

Establishment of a Mouse Model with Cough Hypersensitivity via Inhalation of Citric Acid
Published on: January 10, 2025
Citrin deficiency – pathogenesis, clinical and biochemical manifestation, diagnostics, treatment
Patryk Lipiński1, Elżbieta Ciara2, Ewa Ehmke Vel Emczyńska-Seliga3
1Instytut - Pomnik Centrum Zdrowia Dziecka. p.lipinski@ipczd.pl.
Abstract:
Citrin deficiency is an inherited metabolic disease caused by biallelic pathogenic variants in the SLC25A13 gene encoding the carrier protein called citrin. There are observed three characteristic clinical and biochemical age-dependent phenotypes: neonatal intrahepatic cholestasis caused by citrin deficiency, failure to thrive and dyslipidemia caused by citrin deficiency and adult-onset citrullinemia type 2. The paper presents the characteristics of the pathogenesis of citrin deficiency, clinical and biochemical delineation of individual phenotypes, differential diagnosis and treatment of citrin deficiency.
More Related Videos
11:04The Citrobacter rodentium Mouse Model: Studying Pathogen and Host Contributions to Infectious Colitis
Published on: February 19, 2013
09:23Specific and Accurate Detection of the Citrus Greening Pathogen Candidatus liberibacter spp. Using Conventional PCR on Citrus Leaf Tissue Samples
Published on: June 29, 2018
Related Concept Videos
The Citric Acid Cycle: Overview
The citric...
Chronic Kidney Disease II: Clinical Manifestations
Cystic Fibrosis: Pathogenesis
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
Lysosomal Hydrolases
Chronic Pancreatitis II: Collaborative Care
Assessment:
The Citric Acid Cycle: Output
Regulation of Citric Acid Cycle
The citric acid cycle is regulated in several ways, including feedback inhibition, regulation of enzyme activities, and associated anaplerotic or cataplerotic pathways.
The primary substrate of the TCA cycle—acetyl CoA—is...