Evaluation of earlier versus later dietary management in long-chain 3-hydroxyacyl-CoA dehydrogenase or mitochondrial trifunctional protein deficiency::a systematic review [PDF]
, 2019 Background: Mitochondrial trifunctional protein (MTP) and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiencies are rare fatty acid β-oxidation disorders. Without dietary management the conditions are life-threatening. We conducted a systematic
Clarke, Aileen +7 more
core +2 more sources
RIPK3 dampens mitochondrial bioenergetics and lipid droplet dynamics in metabolic liver disease
Hepatology, EarlyView., 2022 RIPK3 dampens mitochondrial bioenergetics and lipid droplet dynamics in metabolic liver disease. Abstract Background and Aims Receptor‐interacting protein kinase 3 (RIPK3) mediates NAFLD progression, but its metabolic function is unclear. Here, we aimed to investigate the role of RIPK3 in modulating mitochondria function, coupled with lipid droplet (LD)
Marta B. Afonso +16 more
wiley +1 more source
Oxidative stress: new insights on the association of nonalcoholic fatty liver disease and atherosclerosis [PDF]
, 2015 Non-alcoholic fatty liver disease (NAFLD) represents the most common and emerging chronic liver disease worldwide. It includes a wide spectrum of liver diseases ranging from simple fatty liver to non-alcoholic steatohepatitis (NASH), which may progress ...
Albanese, Fabiana +7 more
core +1 more source
Nutrition & Metabolism, 2010 Carnitine is a conditionally essential nutrient that plays a vital role in energy production and fatty acid metabolism. Vegetarians possess a greater bioavailability than meat eaters.
Flanagan Judith L +4 more
doaj +1 more source
Pharmaceutical compounding of orphan active ingredients in Belgium : how community and hospital pharmacists can address the needs of patients with rare diseases [PDF]
, 2019 Background: Pharmaceutical compounding of orphan active ingredients can offer cost-effective treatment to patients when no other drug product is available for a rare disease or during periods of drug product shortages.
Boussery, Koen +7 more
core +2 more sources
Rhabdomyolysis: a genetic perspective [PDF]
, 2015 Rhabdomyolysis (RM) is a clinical emergency characterized by fulminant skeletal muscle damage and release of intracellular muscle components into the blood stream leading to myoglobinuria and, in severe cases, acute renal failure.
Alice R Gardiner +8 more
core +4 more sources
C13orf31 (FAMIN) is a central regulator of immunometabolic function. [PDF]
, 2016 Single-nucleotide variations in C13orf31 (LACC1) that encode p.C284R and p.I254V in a protein of unknown function (called 'FAMIN' here) are associated with increased risk for systemic juvenile idiopathic arthritis, leprosy and Crohn's disease.
core +2 more sources
International Journal of Neonatal Screening, 2021 Early-onset carnitine palmitoyltransferase II deficiency (CPT II deficiency) (OMIM 600650) can result in severe outcomes, which are often fatal in the neonatal to infantile period.
Rachel Mador-House +2 more
doaj +1 more source
Therapeutic potential of co-enzyme Q10 in retinal diseases [PDF]
, 2017 Coenzyme Q10 (CoQ10) plays a critical role in mitochondrial oxidative phosphorylation by serving as an electron carrier in the respiratory electron transport chain.
Marcheggiani, Fabio +6 more
core +1 more source
Oral health in two heterozygote female twins with congenital lactic acidosis [PDF]
, 2017 Introduction: Congenital lactic acidosis (CLA) is a rare disease caused by mutations in Mithocondrial DNA (mtDNA), which affects the ability of cells to use energy that causes accumulation of lactic acid in the body.
GUERRA, Fabrizio +4 more
core +1 more source