Results 31 to 40 of about 397 (122)

Neonatal Acute Liver Failure due to Citrin Deficiency (NALFCD). [PDF]

JIMD Rep
ABSTRACT Both 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 challenges in the early period after presentation while awaiting diagnostic confirmation ...
Chan HY, Wong R, Fung CW, Belaramani KM, Mak CM, Yeung M, Chan T, Yeung C, Kwok Y, Kwok AM.   +9 more
europepmc   +2 more sources

From the cytosol to the inner membrane: biogenesis of the mitochondrial carrier family. [PDF]

Protein Sci
Abstract Mitochondrial carrier proteins are essential for cellular physiology as they are active in a wide range of metabolic pathways including production of cellular energy, amino acid synthesis, redox balance and ion homeostasis. The double membrane of mitochondria provides a tightly gated environment through which carrier proteins facilitate the ...
Palmer CS, Leeming PJ, Stojanovski D.
europepmc   +2 more sources

The therapeutic landscape of citrin deficiency. [PDF]

J Inherit Metab Dis
Abstract Citrin deficiency (CD) is a recessive, liver disease caused by sequence variants in the SLC25A13 gene encoding a mitochondrial aspartate–glutamate transporter. CD manifests as different age‐dependent phenotypes and affects crucial hepatic metabolic pathways including malate–aspartate‐shuttle, glycolysis, gluconeogenesis, de novo lipogenesis ...
Vuković T, Kuek LE, Yu B, Makris G, Häberle J.   +4 more
europepmc   +2 more sources

Neonatal intrahepatic cholestasis caused by citrin deficiency with no hepatic steatosis: a case report

BMC Pediatrics, 2021
Background Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a common form of neonatal jaundice. Histopathological examination of the liver in patients with NICCD typically shows fatty liver, steatohepatitis, and liver fibrosis ...
Ryosuke Miyamoto, Jun Sada, Koki Ota, Kenitiro Kaneko, Hironori Kusano, Yoshiteru Azuma, Akihisa Okumura   +6 more
doaj   +1 more source

Combined primary carnitine deficiency with neonatal intrahepatic cholestasis caused by citrin deficiency in a Chinese newborn

BMC Pediatrics, 2020
Background Primary carnitine deficiency (PCD) is an autosomal recessive disorder affecting the carnitine cycle and resulting in defective fatty acid oxidation.
Yiming Lin, Weihua Lin, Yanru Chen, Chunmei Lin, Zhenzhu Zheng, Jianlong Zhuang, Qingliu Fu   +6 more
doaj   +1 more source

Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7‐year study in eastern coastal areas of China

Molecular Genetics &Genomic Medicine, Volume 11, Issue 6, June 2023., 2023
We study on IEM by newborn screening (NBS) program in eastern coastal areas of China to estimate the prevalence and genetic variants of newborns with IEM and to understand the spectrum of disease and variation of IEM. A total of 245,194 newborns were screened by tandem mass spectrometry (MS/MS), 95 newborns were diagnosed with one of IEM, and 85 cases ...
Shuai Men, Shuang Liu, Qin Zheng, Shuting Yang, Huafen Mao, Zhiwei Wang, Ying Gu, Xinxin Tang, Leilei Wang   +8 more
wiley   +1 more source

Clinical characteristics of primary carnitine deficiency: A structured review using a case‐by‐case approach

Journal of Inherited Metabolic Disease, Volume 45, Issue 3, Page 386-405, May 2022., 2022
Abstract A broad spectrum of signs and symptoms has been attributed to primary carnitine deficiency (PCD) since its first description in 1973. Advances in diagnostic procedures have improved diagnostic accuracy and the introduction of PCD in newborn screening (NBS) programs has led to the identification of an increasing number of PCD patients ...
Loek L. Crefcoeur, Gepke Visser, Sacha Ferdinandusse, Frits A. Wijburg, Mirjam Langeveld, Barbara Sjouke   +5 more
wiley   +1 more source

Real‐life Progression of the Use of a Genetic Panel in to Diagnose Neonatal Cholestasis

JPGN Reports, Volume 3, Issue 2, May 2022., 2022
Objectives: The study aimed to construct an advanced gene panel to ascertain the genetic etiology of patients with neonatal/infantile intrahepatic cholestasis (NIIC), and test patients with NIIC in a clinical setting. Methods: From the group of NIIC patients, whom we had previously tested with our old 18‐gene panel from May 2013 to September 2017 but ...
Shogo Ito, Takao Togawa, Kazuo Imagawa, Koichi Ito, Takeshi Endo, Tokio Sugiura, Shinji Saitoh   +6 more
wiley   +1 more source

My path to citrin deficiency. [PDF]

J Inherit Metab Dis
Abstract Citrin 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 resynthesis of ATP.
Walker JE.
europepmc   +2 more sources

Inborn disorders of the malate aspartate shuttle

Journal of Inherited Metabolic Disease, Volume 44, Issue 4, Page 792-808, July 2021., 2021
Abstract Over the last few years, various inborn disorders have been reported in the malate aspartate shuttle (MAS). The MAS consists of four metabolic enzymes and two transporters, one of them having two isoforms that are expressed in different tissues. Together they form a biochemical pathway that shuttles electrons from the cytosol into mitochondria,
Melissa H. Broeks, Clara D. M. van Karnebeek, Ronald J. A. Wanders, Judith J. M. Jans, Nanda M. Verhoeven‐Duif   +4 more
wiley   +1 more source