Glutamine supplementation as a novel metabolic therapeutic strategy for LIG3-dependent chronic intestinal pseudo-obstruction.
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DOI: 10.1053/j.gastro.2024.08.009
Abstract: BACKGROUND AND AIMS We recently identified a recessive syndrome due to LIG3 mutations in patients with chronic intestinal pseudo-obstruction, leukoencephalopathy and neurogenic bladder. LIG3 mutations affect mitochondrial DNA (mtDNA) maintenance, leading to defective energy production.… read more here.
Keywords: supplementation; pseudo obstruction; intestinal pseudo; lig3 mutant ... See more keywords