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Failure to repair damaged NAD(P)H blocks de novo serine synthesis in human cells.
Cell Mol Biol Lett
January 2025
Enzymology and Metabolism Group, Luxembourg Centre for Systems Biomedicine, University of Luxembourg, L-4367, Belvaux, Luxembourg.
Background: Metabolism is error prone. For instance, the reduced forms of the central metabolic cofactors nicotinamide adenine dinucleotide (NADH) and nicotinamide adenine dinucleotide phosphate (NADPH), can be converted into redox-inactive products, NADHX and NADPHX, through enzymatically catalyzed or spontaneous hydration. The metabolite repair enzymes NAXD and NAXE convert these damaged compounds back to the functional NAD(P)H cofactors.
View Article and Find Full Text PDF[A case report of hypomagnesemia with secondary hypocalcemia caused by a novel compound heterozygous mutation of the TRPM6 gene].
Zhonghua Nei Ke Za Zhi
January 2025
Department of Endocrinology, the First Medical Center of Chinese PLA General Hospital, Beijing100039, China.
Untargeted metabolomics analysis as a potential screening tool for 3-methylglutaconic aciduria syndromes.
Mol Genet Metab
December 2024
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; BCM-CUHK Center of Medical Genetics, Prince of Wales Hospital, Hong Kong, China.
The 3-methylglutaconic aciduria (3-MGA-uria) syndromes comprise a heterogeneous group of inborn errors of metabolism defined biochemically by detectable elevation of 3-methylglutaconic acid (3-MGA) in the urine. In type 1 (or primary) 3-MGA-uria, distal defects in the leucine catabolism pathway directly cause this elevation. Secondary 3-MGA-uria syndromes, however, are unrelated to leucine metabolism-specific defects but share a common biochemical phenotype of elevated 3-MGA.
View Article and Find Full Text PDFBreath biopsy in inborn errors of metabolism: A proof-of-principle study in propionic acidemia.
Mol Genet Metab
December 2024
National Human Genome Research Institute, Bethesda, MD, USA. Electronic address:
Background: Impaired oxidation of branched chain amino acids may give rise to volatile organic compounds (VOCs). We hypothesized that VOCs will be present in exhaled breath of participants with propionic acidemia (PA), and their relative abundance would correlate with clinical and biochemical characteristics of the disease.
Methods: We enrolled 5 affected participants from a natural history study of PA (ClinicalTrials.
Decreased expression of hsa-miR-142-3p and hsa-miR-155-5p in common variable immunodeficiency and involvement of their target genes and biological pathways.
Allergol Immunopathol (Madr)
January 2025
Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran;
Common variable immunodeficiency (CVID) is the most common symptomatic and heterogeneous type of inborn errors of immunity (IEI). However, the pathogenesis process of this disease is often unknown. Epigenetic modifications may be involved in unresolved patients.
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