La adenina fosforribosiltransferasa, también conocida como APRT, es una enzima codificada La APRT posee el EC La APRT se encuentra funcionalmente relacionada con la hipoxantina-guanina fosforribosiltransferasa ( HPRT). (HGPRT) è un enzima codificato negli esseri umani dal gene HPRT1. L’HGPRT è una transferasi che catalizza la conversione dell’ipoxantina in inosina. pela deficiência na enzima hipoxantina- guanina fosforibosiltransferase. neurológicas em la deficiência de hipoxantina-guanina fosforribosiltransferasa.

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Depending on the conditions it can give different compounds such as Alioxan, Uroxanic acid, Uric acid glycol ,Allantoin causingin all reactions peroxide which will be offset by the second enzyme system, catalase. These examples may contain rude words based on your search.

Join Reverso Register Login Facebook connect. On theoretical grounds, therefore, it should be avoided in patients with rare hereditary deficiency of hypoxanthine-guanine phosphoribosyl-transferase HGPRT such as Lesch-Nyhan and Kelley-Seegmiller syndrome.

There it is – results for the hypoxanthine test. Health care resources for gianina disease Expert centres Diagnostic tests 79 Patient organisations 66 Orphan drug s 1. Patients may die from aspiration pneumonia or complications from chronic nephrolithiasis and renal failure.

Patients usually show mild to moderate intellectual deficit. I linfociti B contengono questo enzima, che consente loro di sopravvivere una volta fusi con le cellule del mieloma cresciute sul mezzo HAT per produrre anticorpi monoclonali.


The cause of neurological and behavioral symptoms is unknown. Queste cellule figlie secerneranno il prodotto immunitario cellulare. Microcytic anemia may occur. The Allantoin tranwferasa water will be filtered by the glomerulus while oxygen pass to portal circulation.

Sindrome de Lesch Nyhan by Tania Martinez on Prezi

There is no treatment for the neurological dysfunction. Undetectable HPRT enzyme activity in peripheral blood or in intact cells erythrocyte, fibroblast and molecular genetic testing confirm the diagnosis. Da Wikipedia, l’enciclopedia libera. Differential diagnoses include cerebral palsy, other causes of intellectual deficit, dystonia and self-injury transfrrasa autism, Tourette syndrome, Cornelia de Lange syndrome see these termsidiopathic intellectual deficit, and severe psychiatric disorders.

Translation of “hipoxantina” in English

Allantoin is times more water soluble than uric acidso it was easy for the mammal metabolism to dispose it ,preventing high product concentration. Visite Leggi Modifica Modifica wikitesto Cronologia. It is believed that the uricase degrading the the uric acid, produced large quantities of peroxide oxidants and metabolites, causing the guankna of these by the shortage of antioxidant enzymes.

It has a high oxidizing power.

Ipoxantina-guanina fosforibosil transferasi

The Journal of Biological Chemistry, Voci con modulo citazione e parametro fosfprribosil. Additional information Further information on this disease Classification s 5 Gene s 1 Disability Clinical signs and symptoms Publications in PubMed Other website s Mutazioni nel gene conducono ad iperuricemia:.


With optimal care, few patients live beyond 40 years and most are confined to a wheelchair.

Estratto da ” https: The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. Specialised Social Services Eurordis directory. About the contextual dictionary Download the App Contact Legal considerations. The disappearance of this enzyme led to the longevity of the organism to accumulate as many non-oxidative products.

Adenina fosforribosiltransferasa – Wikipedia, la enciclopedia libre

The admnistration of exogen urate oxidase decreases the uric acid levels on serum and urine. Megaloblastic anemia is frequent and may be severe. Males are generally affected and heterozygous females are carriers usually asymptomatic. Menu di navigazione Strumenti personali Accesso non effettuato discussioni contributi registrati entra.

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