Traduction de «Cerebroatrophic hyperammonemia » (Anglais → Français) :

Rett syndrome [ cerebroatrophic hyperammonemia ]
syndrome de Rett

hyperammonemia [ hyperammoniemia | ammonemia | ammoniemia ]
hyperammoniémie

A rare and severe disorder of urea cycle metabolism most commonly characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a pre
déficit en carbamoyl-phosphate synthétase 1

Inherited disorder characterized by episodes of metabolic crisis and acute encephalopathy. Life-threatening episodes manifest with poor feeding, vomiting, weight loss, lethargy, tachypnea, seizures or coma and are caused by hyperammonemia, metabolic
encéphalopathie hyperammoniémique par déficit en anhydrase carbonique VA