Ornithine transcarbamylase deficiency

Orpha code: 664OMIM code: 311250

Definicja

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.

Disease data
Klasyfikacja

Disease

Synonimy
OCT deficiency
Niedobór karbamylotransferazy ornityny
Niedobór OCT
Niedobór OTC
OTC deficiency
Ornithine carbamoyltransferase deficiency
Kod ORPHA
664
Kod OMIM
311250
Kod ICD10
E72.4
Kod ICD11
5C50.AY

No additional description.

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