Involvement of a battery of investigated genes in lipid droplet pathophysiology and associated comorbidities - PubMed
Source : https://pubmed.ncbi.nlm.nih.gov/39329369/
Lipid droplets (LDs) are highly specialized energy storage organelles involved in the maintenance of lipid homoeostasis by regulating lipid flux within white adipose tissue (WAT). The physiological function of adipocytes...
This review examines gene mutations affecting lipid droplet metabolism in white adipose tissue, linking disrupted lipid homeostasis to lipodystrophies, insulin resistance, and metabolic dysfunction through altered lipid storage and regulation.
The Role of Antioxidants in the Treatment of Metabolic Dysfunction-Associated Fatty Liver Disease: A Systematic Review - PubMed
Source : https://pubmed.ncbi.nlm.nih.gov/39061866/
Non-alcoholic fatty liver disease (NAFLD) is a global public health problem that causes liver-related morbidity and mortality. It is also an independent risk factor for non-communicable diseases. In 2020, a...
Natural antioxidants show greater efficacy than synthetic ones in treating metabolic-associated fatty liver disease (MAFLD), with both human and animal studies highlighting the importance of balancing oxidative stress in therapy.
Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Lipase Deficiency with a Focus on Wolman Disease - PubMed
Source : https://pubmed.ncbi.nlm.nih.gov/39770929/
Lysosomal acid lipase deficiency (LAL-D) is an ultra-rare lysosomal storage disease with two distinct phenotypes, an infantile-onset form (formerly Wolman disease) and a later-onset form (formerly cholesteryl ester storage disease)....
Lysosomal acid lipase deficiency, a rare genetic disorder, requires early diagnosis and urgent enzyme replacement therapy with dietary management—especially in infantile-onset cases—to improve outcomes and reduce high early mortality.
Perioperative Care of a Child With Molybdenum Cofactor Deficiency - PubMed
Source : https://pubmed.ncbi.nlm.nih.gov/40322629/
Molybdenum is a trace mineral that is a key component of several enzyme systems. In the human body, molybdenum is complexed with a pterin-based molybdenum cofactor (MOCO), to form the...
Molybdenum cofactor deficiency is a rare, fatal metabolic disorder causing severe neurological damage; this case highlights anesthetic considerations for affected children undergoing surgical procedures like spinal instrumentation.
Safety and Efficacy of DTX401, an AAV8-Mediated Liver-Directed Gene Therapy, in Adults With Glycogen Storage Disease Type I a (GSDIa) - PubMed
Source : https://pubmed.ncbi.nlm.nih.gov/40064185/
Glycogen storage disease type Ia (GSDIa) is a rare, life-threatening, inherited carbohydrate metabolism disorder caused by glucose-6-phosphatase (G6Pase) deficiency, which is essential for glycogenolysis and gluconeogenesis. GSDIa management includes a...
DTX401 gene therapy for GSDIa showed a favorable safety profile and significantly reduced cornstarch dependency over 52 weeks, improving glucose maintenance without serious treatment-related adverse events in this early-phase trial.