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disease > biological abnormality > hyperornithinemia
disease > genetic disease > hereditary disease > aminoacid disorder > hyperornithinemia
disease > enzymopathy > aminoacid disorder > hyperornithinemia
disease > metabolic disorder > hyperornithinemia

Terme préférentiel

hyperornithinemia  

Définition(s)

  • Ornithine translocase deficiency, also called hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome, is a rare autosomal recessive urea cycle disorder affecting the enzyme ornithine translocase, which causes ammonia to accumulate in the blood, a condition called hyperammonemia. (Wikipedia)

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http://data.loterre.fr/ark:/67375/VH8-MXJQPW9J-9

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RDF/XML TURTLE JSON-LD Dernière modif. 14/05/2020