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| http://dx.doi.org/10.4103/0019-5049.183396 | DOI Listing |
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Mitochondrial HMG-CoA synthase deficiency.
Mol Genet Metab
January 2025
Clinical Department of Laboratory Medicine, University Hospitals Leuven, Leuven, Belgium; Department of Cardiovascular Sciences, KU Leuven, Leuven, Belgium. Electronic address:
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase 2 (HMGCS2) deficiency is a rare, potentially life-threatening autosomal recessive disorder resulting from mutations in the HMGCS2 gene, leading to impaired ketogenesis. We systematically reviewed the clinical presentations, biochemical and genetic abnormalities in 93 reported cases and 2 new patients diagnosed based on biochemical findings. Reported onset ages ranged from 3 months to 6 years, mostly before the age of 3.
View Article and Find Full Text PDFThe pyruvate dehydrogenase kinase inhibitor dichloroacetate mitigates alcohol-induced hepatic inflammation and metabolic disturbances in mice.
Hepatol Commun
December 2024
Department of Inflammation and Immunity, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, USA.
Background: Dichloroacetate (DCA), a pan-pyruvate dehydrogenase kinase inhibitor, ameliorates multiple pathological conditions and tissue injury and shows strong potential for clinical applications. Here, we investigated the preventive effects of DCA in a murine model of alcohol-associated liver disease.
Methods: C57BL/6J mice were subjected to the acute-on-chronic model of alcohol-associated liver disease and treated with DCA.
Can endogenous ethylene glycol production occur in humans? A detailed investigation of adult monozygotic twin sisters.
Clin Toxicol (Phila)
November 2024
Division of Metabolics and Newborn Screening, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada.
Introduction: To the best of our knowledge, clinically significant endogenous ethylene glycol production has never been reported in humans, very seldom reported in other animals or microorganisms, and then only under rare and specific conditions. We describe the detailed investigations we undertook in two adult monozygotic twin sisters to ascertain whether they were producing endogenous ethylene glycol.
Methods: Two previously healthy monozygotic adult twin sisters presented with recurrent episodes of apparent ethylene glycol poisoning beginning at age 35, requiring chronic hemodialysis to remove ethylene glycol and its metabolites as well as to restore metabolic homeostasis.
Infantile Fructose-1,6-Bisphosphatase Deficiency Masquerading as Mitochondriopathy.
Cureus
August 2024
Paediatrics, Saveetha Medical College and Hospital, Saveetha Institute of Medical and Technical Sciences (SIMATS) Saveetha University, Chennai, IND.
Article Synopsis
- Fructose-1,6-bisphosphatase 1 (FBP1) deficiency is a rare genetic disorder affecting gluconeogenesis, leading to severe hypoglycemia and lactic acidosis in infants.
- A case study of a 1.5-year-old girl revealed symptoms like vomiting and failure to thrive, ultimately diagnosed through genetic testing that confirmed a mutation in the FBP1 gene.
- Management involved dietary changes to limit simple sugars and increase complex carbohydrates, highlighting the complexities of diagnosing rare metabolic disorders through genetic means.
Acute Metabolic Decompensation of Isovaleric Acidemia Presenting as Persistent Metabolic Acidosis in a Middle-Aged Man: A Case Report.
Cureus
August 2024
Internal Medicine, York and Scarborough Teaching Hospitals NHS Foundation Trust, Scarborough, GBR.
Isovaleric acidemia is a rare autosomal recessive inborn error of metabolism that affects the breakdown of the essential amino acid leucine. Acute metabolic decompensation is often triggered by stressors such as surgery, concurrent illness, excessive protein intake, or dehydration. This can lead to a catabolic state with increased endogenous protein turnover, posing a risk of potentially life-threatening crises due to the accumulation of toxic metabolites from incomplete leucine breakdown.
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