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.
Share
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.
Share
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.
Share
LDL-Cholesterol-Lowering Effects of a Dietary Supplement Containing Onion and Garlic Extract Used in Healthy Volunteers - PubMed
Source : https://pubmed.ncbi.nlm.nih.gov/39203947/
Hypercholesterolemia plays a pivotal role in the development and progression of cardiovascular diseases, and its prevention seems to be a crucial healthcare strategy to ameliorate these conditions. Subjects with mild...
A garlic and onion extract significantly reduced LDL and total cholesterol, improved blood pressure, and lowered oxidative and inflammatory markers, suggesting its potential for managing mild hypercholesterolemia safely.
Share
New insights into the therapeutic options to lower lipoprotein(a) - PubMed
Source : https://pubmed.ncbi.nlm.nih.gov/38778431/
If the results from the cardiovascular outcome trials, designed to demonstrate whether the reduction of Lp(a) of more than 80% as observed with pelacarsen, olpasiran or lepodisiran translates into the...
Elevated Lp(a) increases cardiovascular risk. Traditional lipid therapies have limited Lp(a) impact, prompting novel approaches like antisense oligonucleotides, siRNAs, and CRISPR. Ongoing trials may establish Lp(a) as a therapeutic target.
Share