\"Ornithine Transcarbamylase Deficiency\" \u2013\u00a0What Is It?<\/h2><\/div>
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Ornithine transcarbamylase deficiency (OTC deficiency) is an X-linked metabolic disorder caused by pathogenic variants<\/span>, i.e., genetic changes in the OTC<\/em> gene. This defect leads to a faulty breakdown of ammonia. Due to a significantly increased ammonia content in the blood, it can lead to coma and severe brain damage in male newborns. However, a later age of onset and a milder course of the disease are also possible, although females can also be affected.<\/p>\n<\/div><\/div><\/div><\/div><\/div><\/div>
Overview of the Chapters on This Page:<\/h4><\/div><\/div><\/div>
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Ornithine Transcarbamylase Deficiency \u2013 What Is It? (This Section)<\/div><\/li><\/ul><\/div><\/div>