Words similar to hypocitrullinemia

Example sentences for: hypocitrullinemia

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It has been reported before that an increased excretion of orotate in sick children may not be uncommon and that a positive allopurinol load test may indicate unrecognized mitochondrial disease, making orotic acid as a potential marker of mitochondrial dysfunction [ 35 ] . A potential link between mitochondrial cytopathies and urea cycle dysfunction has also been suggested by the findings of hypocitrullinemia in patients with neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome (Mendelian Inheritance in Man database *551500) caused by a T8993G mutation in mtDNA that triggers ATPase deficiency [ 36 37 ] . It was hypothesized that the NARP mutation would cause complex V deficiency in the small intestine as well, thus reducing the availability of mitochondrial ATP required for citrulline synthesis.