Method of diagnosing the risk of thermolabile phenotype...

C - Chemistry – Metallurgy – 12 – Q

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C12Q 1/48 (2006.01) C12Q 1/68 (2006.01) C12N 15/09 (2006.01)

Patent

CA 2588053

A method of diagnosing thermolabile phenotype diseases including influenza encephalopathy, Reye~s syndrome, RS virus infection, adenovirus infection, rhinovirus infection, rubella, Japanese encephalitis, malaria infection, sudden infant death syndrome and Kawasaki disease with a high risk of the onset of lethal or long-lasting symptoms in the central nerve system or multiple organ insufficiency, in a feverish condition characterized by comprising examining whether or not the enzymatic activity of at least one enzyme, which participates in any of a transporter, the carnitine cycle, the long-chain .beta.-oxidation cycle, the medium-chain/shot-chain .beta.- oxidation cycle, the electron transfer, the synthesis of a ketone and the production of ATP, is significantly lowered, compared with a healthy subject, at 39oC or higher (in particular, 41oC or higher) referring the activity thereof at 37oC as to 100%.

Procédé permettant de diagnostiquer des maladies provoquées par un phénotype thermolabile, dont l~encéphalopathie associée à la grippe, le syndrome de Reye, l~infection par le virus RS, l~infection par l~adénovirus, l~infection par le rhinovirus, la rubéole, l~encéphalite japonaise, l~infection par le paludisme, le syndrome de la mort subite du nourrisson et la maladie de Kawasaki, présentant un risque élevé de déclenchement de symptômes mortels ou de longue durée au niveau du système nerveux central ou une insuffisance organique multiple, accompagné d~un état fiévreux, caractérisé par la mise en AEuvre d~un examen visant à déterminer la réduction significative ou non de l~activité enzymatique d~au moins une enzyme participant à l~un des cycles suivants : le transport, le cycle de la carnitine, le cycle de la .beta.-oxydation à longue chaîne, le cycle de la .beta.-oxydation à chaîne moyenne / courte, le transfert d~électrons, la synthèse d~une cétone et la production d~ATP, et ce par comparaison avec un sujet sain à 39 °C ou plus (notamment à 41 °C ou plus) en considérant cette activité à 37 °C comme étant le pourcentage de référence (100 %).

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