Ornithine transcarbamylase deficiency

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Ornithine transcarbamylase deficiency

Synonyms: OCT deficiency | OTC deficiency | Ornithine carbamoyltransferase deficiency

A rare genetic disorder of urea cycle metabolism and ammonia detoxification characterized by either a severe neonatal-onset disease found mainly in males or later-onset (partial) forms of the disease. Both present with episodes of hyperammonemia that can be fatal and which can lead to neurological sequelae.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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Clinical Trials

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