Hypoaminoacidemia and Pyroglutamic Aciduria: Potential Biomarkers in Malnutrition-Related Hyperammonemia. [PDF]
JIMD RepABSTRACT Hyperammonemia is a medical emergency, and the cause must be identified quickly in order to treat appropriately. Malnutrition is a known risk factor for hyperammonemia; however, there are limited reliable lab indicators used to identify malnutrition.
Crenshaw MM +12 more
europepmc +2 more sources
Biochemical, Clinical, and Functional Characterization of a Rare c.-106C>A Promoter Region Variant in Late-Onset Ornithine Transcarbamylase Deficiency: A Multifamily Case Series. [PDF]
JIMD RepABSTRACT Ornithine transcarbamylase (OTC) deficiency can present during the neonatal period, infancy, or adulthood. Late‐onset phenotypes are influenced by residual enzyme activity and OTC gene expression. The objective of this study was to assess the pathogenicity of a rare promoter region variant, c.‐106C>A.
Tholl SQ +9 more
europepmc +2 more sources
AASLD practice guidance on drug, herbal, and dietary supplement–induced liver injury
, 2022 Hepatology, EarlyView.
Robert J. Fontana +6 more
wiley +1 more source
Targeting the muscle for the treatment and prevention of hepatic encephalopathy [PDF]
, 2016 Muscle mass loss or sarcopenia is a principle component of malnutrition which prevails in 65–90% of patients with end-stage liver disease [1]. Intuitively, the roots of malnutrition play a precipitating role in muscle catabolism.
Bémeur, Chantal +2 more
core +2 more sources
Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations [PDF]
, 2010 Objective: The phenotype associated with heterozygous HNF4A gene mutations has recently been extended to include diazoxide responsive neonatal hypoglycemia in addition to maturity-onset diabetes of the young (MODY).
Ashcroft +19 more
core +2 more sources
Glutamate induces autophagy via the two-pore channels in neural cells [PDF]
, 2016 NAADP (nicotinic acid adenine dinucleotide phosphate) has been proposed as a second messenger for glutamate in neuronal and glial cells via the activation of the lysosomal Ca2+ channels TPC1 and TPC2.
+11 more
core +4 more sources
Disease associated with equine coronavirus infection and high case fatality rate. [PDF]
, 2014 BackgroundEquine coronavirus (ECoV) is associated with clinical disease in adult horses. Outbreaks are associated with a low case fatality rate and a small number of animals with signs of encephalopathic disease are described.ObjectivesThe aim of this ...
Fielding, CL +7 more
core +1 more source
Ammonia : this is not the end but rather the end of the beginning [PDF]
, 2018 Hepatic encephalopathy (HE) represents a wide spectrum of neurological or neuropsychological symptoms caused by liver disease and/or portosystemic shunts.
Dam, Gitte +2 more
core +1 more source
45CaCl2 autoradiography in brain from rabbits with encephalopathy from acute liver failure or acute hyperammonemia [PDF]
, 1994 In experimental hepatic encephalopathy and hyperammonemia, extracellular levels of glutamate are increased in hippocampus and cerebral cortex. It has been suggested that overstimulation of glutamate receptors causes a pathological entry of calcium into ...
Gramsbergen, J.-B.P. (J. B P) +2 more
core +10 more sources
Liver-specific knockout of arginase-1 leads to a profound phenotype similar to inducible whole body arginase-1 deficiency [PDF]
, 2016 Arginase-1 (Arg1) converts arginine to urea and ornithine in the distal step of the urea cycle in liver. We previously generated a tamoxifen-inducible Arg1 deficient mouse model (Arg1-Cre) that disrupts Arg1 expression throughout the whole body and leads
Al-Dirbashi, Osama Y. +5 more
core +1 more source