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Concept information

disease > genetic disease > hereditary disease > aminoacid disorder > ornithine carbamoyltransferase deficiency
disease > enzymopathy > aminoacid disorder > ornithine carbamoyltransferase deficiency

Terme préférentiel

ornithine carbamoyltransferase deficiency  

Définition

  • Ornithine transcarbamylase deficiency is the most common urea cycle disorder in humans. It is an inherited disorder which causes toxic levels of ammonia to build up in the blood.Ornithine transcarbamylase, the defective enzyme in this disorder, is the final enzyme in the proximal portion of the urea cycle. (Wikipedia)

Concept générique

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URI

http://data.loterre.fr/ark:/67375/VH8-FV653LLM-S

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