BMC Medical Genetics, 2013 Background Tandem mass spectrometry (MS/MS) analysis is a powerful tool for newborn screening, and many rare inborn errors of metabolism are currently screened using MS/MS.
Wang Li-Yun +6 more
doaj +3 more sources
Molecular Genetics and Metabolism ReportsCitrin deficiency is a congenital secondary urea cycle disorder lacking useful disease models for effective treatment development. In this study, human induced pluripotent stem cells (iPSCs) were generated from two patients with citrin deficiency and ...
Mai Okano +9 more
doaj +2 more sources
Exogenous aralar/slc25a12 can replace citrin/slc25a13 as malate aspartate shuttle component in liver [PDF]
Molecular Genetics and Metabolism Reports, 2023 The deficiency of CITRIN, the liver mitochondrial aspartate–glutamate carrier (AGC), is the cause of four human clinical phenotypes, neonatal intrahepatic cholestasis caused by CITRIN deficiency (NICCD), silent period, failure to thrive and dyslipidemia ...
Luis González-Moreno +13 more
doaj +2 more sources
Rapid Genetic Diagnosis of Citrin Deficiency by Multicolor Melting Curve Analysis [PDF]
Frontiers in Pediatrics, 2021 Citrin deficiency caused by SLC25A13 genetic mutations is an autosomal recessive disease, and four prevalent mutations including c.851_854del, c.1638_1660dup, IVS6+5G>A, and IVS16ins3kb make up >80% of total pathogenic mutations within the Chinese ...
Qinlong Zeng +9 more
doaj +2 more sources
Newborn Screening for Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency and Analysis of SLC25A13 Gene Mutations in Hefei, China [PDF]
International Journal of Neonatal ScreeningCitrin deficiency (CD) is an autosomal recessive disorder and represents one of the urea cycle disorders. This study aims to analyze the detection rate, clinical features, and genetic mutation characteristics of neonatal intrahepatic cholestasis caused ...
Qingqing Ma +7 more
doaj +2 more sources
Dynamic changes of metabolic characteristics in neonatal intrahepatic cholestasis caused by citrin deficiency [PDF]
Frontiers in Molecular Biosciences, 2022 Introduction: Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a pan-ethnic complicated inborn error of metabolism but the specific mechanism is not fully understood.Methods: A total of 169 patients with NICCD who have biallelic ...
Ting Zhang +9 more
doaj +2 more sources
Neonatal Acute Liver Failure due to Citrin Deficiency (NALFCD) [PDF]
JIMD ReportsBoth citrin deficiency (CD) and citrullinemia type I (CTLN1) may be detected by elevated citrulline through newborn screening (NBS) or present as acute liver failure in later infancy, but they differ significantly in management. This may pose therapeutic
Hoi‐Yin Chan +9 more
doaj +2 more sources
Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency with SLC25A13 Mutation Presenting Hepatic Steatosis and Prolonged Jaundice. A Rare Case Report [PDF]
Medicina, 2021 Background: Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a rare autosomal recessive disease. The incidence of citrin deficiency is estimated between 1/10,000 and 1/20,000 in Taiwan. Case report: This report describes a case of
Shu-Wei Hu +5 more
doaj +2 more sources
A Case Report: Can Citrin Deficiency Lead to Hepatocellular Carcinoma in Children? [PDF]
Frontiers in Pediatrics, 2019 Citrin deficiency initially presents as neonatal intrahepatic cholestasis (NICCD) and often resolves within first year of infancy. Failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD) has been recently proposed as a novel post-NICCD ...
Jiayi He +6 more
doaj +2 more sources
Citrin deficiency: A treatable cause of acute psychosis in adults
Neurology India, 2015 Citrin deficiency is an autosomal recessive genetic disorder caused by a defect in the mitochondrial aspartate/glutamate antiporter, citrin. The disorder manifests either as neonatal intra-hepatic cholestasis or occurs in adulthood with recurrent ...
Bijarnia-Mahay, Sunita +5 more
core +5 more sources