American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2140-2150, September 2026.ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta +17 more
wiley +1 more source
Incidental maternal glutaric aciduria type I detection through newborn screening: A case report. [PDF]
Mol Genet Metab RepGrillet PE +8 more
europepmc +1 more source
Endocrinology, Diabetes &Metabolism, Volume 9, Issue 5, September 2026.The primary function of statins is to inhibit cholesterol synthesis, which contributes to their antidiabetic effects. However, the majority of the diabetic effects of statins are due to inhibition of isoprenoid synthesis. Atorvastatin, simvastatin and rosuvastatin possess the most pronounced diabetogenic properties. In contrast, lovastatin, fluvastatin,
Ali Nosrati Andevari, Mohsen Koolivand
wiley +1 more source
Analysis of ligand recognition by choline O-acetyltransferase reveals thiol-reactive assay interference and weak ligand affinity in solution. [PDF]
J Biol ChemForsgren N +9 more
europepmc +1 more source
Taurine and Metabolic Diseases: Molecular Mechanisms and Therapeutic Implications
Food Frontiers, Volume 7, Issue 5, September 2026.The dietary sources of taurine, as well as its protective effects and mechanisms in metabolism‐related diseases and metabolic disorder–associated ocular and cerebral injuries. ABSTRACT Taurine (Tau) is a sulfur‐containing amino acid prevalent in animal tissues and primarily acquired through dietary sources.
Xiaojie Ma, Zhijian Rao, Lifang Zheng
wiley +1 more source
Lipidomic profiling reveals medium-chain acylcarnitines alterations as metabolic signatures in IgA nephropathy. [PDF]
BMC NephrolCheng J +8 more
europepmc +1 more source
From Common Pathway to Divergent Diseases: Metabolic Aspects of Inborn Errors of CoA Biosynthesis
Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.ABSTRACT Coenzyme A (CoA) biosynthesis is a conserved, dynamically regulated pathway essential for mitochondrial energy production, fatty acid oxidation, lipid biosynthesis and protein acylation. Biallelic variants in PANK2, PPCS, PPCDC, and COASY cause rare inborn errors of CoA biosynthesis, associated with markedly different clinical phenotypes ...
Ivano Di Meo +3 more
wiley +1 more source
Medium Chain Acyl‐CoA Dehydrogenase Deficiency; an Unexpected Cause of Neonatal Ketoacidosis
JIMD Reports, Volume 67, Issue 5, September 2026.ABSTRACT Medium‐chain acyl‐CoA dehydrogenase deficiency (MCADD) classically presents with hypoketotic hypoglycaemia; however, this presentation is now rare following the introduction of newborn screening. While children with MCADD may produce some ketones, severe ketoacidosis has not been previously described.
Nazreen Kamarus Jaman +7 more
wiley +1 more source
Transcriptomic and Metabolomic Profiling Reveals the Antiproliferative Mechanism of Goose Serum and Plasma in SW1990 Cells. [PDF]
Biology (Basel)Zhou X +5 more
europepmc +1 more source
MedComm, Volume 7, Issue 9, September 2026.This work synthesizes recent insights into the pathological roles of cyclins and cyclin‐dependent kinases (CDKs) across human cancers, highlights state‐of‐the‐art innovative approaches (especially targeted degradation and redistribution of CDK/cyclin proteins) for cancer therapy, and outlines future directions for CDK/cyclin‐related biomedical research.
Suya Zheng +9 more
wiley +1 more source