Quo vadis ureagenesis disorders? A journey from 90 years ago into the future
Johannes Häberle,
Barbara Siri,
Carlo Dionisi‐Vici
Abstract:The pathway of ammonia disposal in the mammalian organism has been described in 1932 as a metabolic cycle present in the liver in different compartments. In 1958, the first human disorder affecting this pathway was described as a genetic condition leading to cognitive impairment and constant abnormalities of amino acid metabolism. Since then, defects in all enzymes and transporters of the urea cycle have been described, referring to them as primary urea cycle disorders causing primary hyperammonemia. In additi… Show more
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