Ornithine Transcarbamylase Deficiency
Pathogenesis (Urea Cycle Disorder)
- Ornithine Transcarbamylase deficiency results in a urea cycle disorder, which leads to toxic accumulation of nitrogen (ammonia).
Clinical
- Onset: Birth
- Neurological manifestations: Failure to Thrive.
Clinical, Mild Form
- Onset: Adulthood
- Neurological manifestations: Ammonia toxicity (confusion, decreased arousal, ataxia) with high-protein foods.
Genetics
- OTC gene mutation, ornithine transcarbamylase deficiency
- X-linked, Dominant
References
- Calvo, Sherri; Collins, Heather; Greenberg, Kathleen, et. al at US National Library of Medicine, Genetics Home Reference. https://ghr.nlm.nih.gov