Citrin deficiency mimicking mitochondrial depletion syndrome [PDF]
BMC Pediatrics, 2020 Background Neonatal intrahepatic cholestasis caused by citrin deficiency (CD) is a rare inborn error of metabolism due to variants in the SLC25A13 gene encoding the calcium-binding protein citrin.
S. C. Grünert +13 more
doaj +8 more sources
Genetic Analysis of Peroxisomal Genes Required for Longevity in a Yeast Model of Citrin Deficiency [PDF]
Diseases, 2020 Citrin is a liver-specific mitochondrial aspartate−glutamate carrier encoded by SLC25A13. Citrin deficiency caused by SLC25A13 mutation results in carbohydrate toxicity, citrullinemia type II, and fatty liver diseases, the mechanisms of some of ...
Chalongchai Chalermwat +3 more
doaj +3 more sources
Hypoketotic hypoglycemia in citrin deficiency: a case report [PDF]
BMC Pediatrics, 2020 Background Citrin deficiency (CD) is a recessive metabolic disease caused by biallelic pathogenic variants in SLC25A13. Although previous studies have reported ketosis in CD, it was observed at the time of euglycemia or mild hypoglycemia.
Yoichi Wada +4 more
doaj +5 more sources
Challenges in dietary management: a qualitative study on caregivers of preschool and school-age children with citrin deficiency [PDF]
Orphanet Journal of Rare DiseasesBackground Reasonable dietary management is the most important and effective treatment for citrin deficiency. However, as this is a chronic and lifelong disease, managing citrin deficiency requires not only early diagnosis and the use of lactose-free or ...
Shuxian Zhang +4 more
doaj +3 more sources
Food Preferences of Patients with Citrin Deficiency. [PDF]
Nutrients, 2021 Citrin deficiency is characterized by a wide range of symptoms from infancy through adulthood and presents a distinct preference for a diet composed of high protein, high fat, and low carbohydrate.
Okamoto M +9 more
europepmc +5 more sources
p.Val452Ile mutation of the SLC25A13 gene in a Turkish patient with citrin deficiency [PDF]
The Turkish Journal of Pediatrics, 2017 Citrin deficiency is an autosomal recessive metabolic disorder, which is caused by pathogenic mutations in the SLC25A13 gene on chromosome 7q21.3, as the causative gene that encodes the liver type aspartate/glutamate carrier isoform 2 (AGC2). One of the
Berna Şeker-Yılmaz +4 more
doaj +6 more sources
My path to citrin deficiency. [PDF]
J Inherit Metab DisCitrin belongs to the SLC25 transport protein family found mostly in inner mitochondrial membranes. The family prototype, the ADP-ATP carrier, delivers ATP made inside mitochondria to the cellular cytoplasm and returns ADP to the mitochondrion for ...
Walker JE.
europepmc +7 more sources
Citrin deficiency-The East-side story. [PDF]
J Inherit Metab DisCitrin deficiency (CD) is a complex metabolic condition due to defects in SLC25A13 encoding citrin, an aspartate/glutamate carrier located in the mitochondrial inner membrane.
Häberle J.
europepmc +5 more sources
Citrin Deficiency: Clinical and Nutritional Features. [PDF]
Nutrients, 2023 SLC25A13 gene mutations are responsible for diseases related to citrin deficiency (CD), such as neonatal intrahepatic cholestasis caused by citrin deficiency and adult-onset type II citrullinemia (CTLN2).
Komatsu M, Tanaka N, Kimura T, Yazaki M.
europepmc +4 more sources
Current Understanding of Pathogenic Mechanisms and Disease Models of Citrin Deficiency [PDF]
Journal of Inherited Metabolic DiseaseCitrin deficiency (CD) is a complex mitochondrial disease with three different age-related stages: neonatal intrahepatic cholestasis caused by CD (NICCD), failure to thrive and dyslipidemia caused by CD (FTTDCD), and type II citrullinemia (CTLN2 ...
Edmund R S Kunji +2 more
exaly +9 more sources