Clinical and genetic characteristics of 36 patients with ornithine transcarbamylase deficiency

Urea cycle disorders are a group of congenital metabolic disorders with a high risk of death. The pathogenesis is associated with the accumulation of ammonia and other intermediate products of protein metabolism that have a neurotoxic effect. This paper presents a retrospective analysis of 36 cases of one of the most common urea cycle disorders - ornithine transcarbamylase deficiency (OTCD). A thorough analysis of the clinical picture of the disease in this group of patients is presented.

OTCD has extremely variable timing of onset and severity and, as a result, significantly complicates prompt and accurate clinical diagnosis. This research is designed to heighten clinical awareness of this group of diseases among doctors of all specialties, in particular OTCD.

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