What is Citrin Deficiency?

English

Citrin Deficiency is an inherited autosomal recessive metabolic condition caused by mutations in the SLC25A13 gene encoding mitochondrial transporter citrin.

Citrin is also known as mitochondrial aspartate glutamate carrier 2 (AGC2 or aralar2) which is a protein in humans encoded by the SLC25A13 gene (Kobayashi et al. 1999).Citrin is involved in metabolic functions including glycolysis, gluconeogenesis, urea cycle, the metabolism of galactose and NAD/NADH nucleotides.  Citrin deficiency can have neonates, children and adults onsets with different manifestations.

Often citrin deficiency is characterized by a food preference which is rich in proteins and/or rich in lipids and aversion to carbohydrates.

​It should be noted that not all patients with citrin deficiency will exhibit the same symptoms and only a very small percentage of patients develop an adult onset.

​Clinical Description

Three Phenotypes of Citrin Deficiency
Onset Types
Neonatal Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency (NICCD)
Child Failure to Thrive and Dyslipidemia caused by Citrin Deficiency (FTTDCD)
Adolescent / Adult Failure to Thrive and Dyslipidemia caused by Citrin Deficiency (FTTDCD)

 

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Citrin Foundation

Citrin Foundation, set up in 2016 to tackle citrin deficiency, aims to provide end-to-end support to all citrin deficiency patients, from funding research that drives effective treatments and eventually cure, and provide support to patients and families. We are a patient-driven, not-for profit organization.

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