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BackgroundPatients with urea cycle disorders (UCDs) have an increased risk of neurological disease manifestation.AimsDetermining… Expand A key question for urea cycle disorders is their incidence. In the United States two UCDs, argininosuccinic synthetase and lyase… Expand Background: Knock-out of S1P lyase, the only enzyme cleaving the sphingoid backbone, causes a severe phenotype. Results: S1P… Expand The cleavage of sphingoid base phosphates by sphingosine-1-phosphate (S1P) lyase to produce phosphoethanolamine and a fatty… Expand Summary3-Hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase deficiency is a rare inborn error affecting leucine catabolism and… Expand We report the case of an 8-month-old infant with 3-hydroxy-3-methylglutaryl coenzyme A deficiency (OMIM 246450), an inborn error… Expand 3-Hydroxy-3-methylglutaryl coenzyme A lyase deficiency, an inborn error of ketone body synthesis and leucine degradation, is a… Expand development (Shilkin et al 1981). Treatment regimes have varied, and optimal management has not yet been agreed. While some… Expand A 6½‐month‐old male offspring of consanguineous Egyptian parents was first seen because of fever, somnolence, vomiting, right… Expand Two PATIENTS with a deficiency of 3-hydroxy-3methylglutaryl coenzyme A (HMG-CoA) lyase have been described? '-' This enzyme… Expand