Ornithine transcarbamylase deficiency (OTCD) is a form of hyperammonaemic encephalopathy. It can have variable levels of severity.
Epidemiology
It is considered the most common inborn error of metabolism of the urea cycle, with an incidence of one case per 14,000 live births.
Pathology
It is characterised by signs and symptoms of encephalopathy, which are induced by the accumulation of precursors of urea, principally ammonia and glutamine.
Genetics
It has an X-linked pattern of inheritance.
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