Ornithine transcarbamylase deficiency
ORPHA:664· ICD-10 E72.4
Definition
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.
- Prevalence
- 1-9 / 100 000
- Inheritance
- X-linked recessive
- Age of onset
- All ages