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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I linfociti B contengono questo hipoxantinna, che consente loro di tramsferasa una volta fusi con le cellule del mieloma cresciute sul mezzo HAT hipoxanyina produrre anticorpi monoclonali. The project consists of the design of nanoreactor compatible with the human body with the goal to decompose the uric acid in the human body into more soluble and easy to remove compounds such as allantoin, water and oxygen.

The admnistration of exogen urate oxidase decreases the uric acid levels on serum and urine. Antenatal diagnosis Prenatal diagnosis by amniocentesis or chorionic villus sampling is possible if the mutation has been identified in the family.

Estratto da ” https: Specialised Social Services Eurordis directory. Prenatal diagnosis by amniocentesis or chorionic villus sampling is possible if the mutation has been identified in the family. Patients are normal at birth.

Adenina fosforribosiltransferasa

Patients usually show mild to moderate intellectual deficit. In these cell lines the most commonly used genetic endpoints measure mutation at thymidine kinase TK and hypoxanthine-guanine phosphoribosyl transferase HPRTand a transgene of xanthine-guanine phosphoribosyl transferase XPRT. Self-injury requires physical restraints, behavioral and pharmaceutical treatment gabapentin, carbamazepine. Allantoin is times more water soluble than uric acidso it was easy for the mammal metabolism to dispose it ,preventing high product concentration.


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Ipoxantina-guanina fosforibosil transferasi – Wikipedia

There is no treatment for the neurological dysfunction. In this case we will handle only two applications: The cause of neurological and behavioral symptoms is unknown. Spasticity and dystonia can be managed with benzodiazepines diazepam, alprazolam and gamma-aminobutyric acid inhibitors baclofen, tizanidine.

Tahoma, Verdana, Arial, sans-serif; font-size: Other search option s Alphabetical list. Renal failure or acidosis occur rarely.

Patients may die from aspiration pneumonia or complications from chronic nephrolithiasis and renal failure. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis tosforribosil diagnosis or treatment.

Megaloblastic anemia is supposed to be due to increased folic acid consumption but it does not respond to folic supplementation. Health care resources for this disease Expert centres Diagnostic tests 79 Transfwrasa organisations 66 Orphan drug s 1.

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The action site is in the kidney, specifically in the afferent glomerular artery, this in order that the reaction happens before passing through hipoxantna filtration bowman’s capsule. The most succesful theorie says that the antioxidant system of the body with the participation of the enzymes superoxide dismutase and glutathione dismutase, these enzymes prevent oxidative damage in aging cells ,preventing various diseases.


Mutazioni nel gene conducono ad iperuricemia:.

UAO is due to deficient recycling and enhanced synthesis of purine bases. Questa reazione trasferisce il gruppo 5-fosforibosile dal 5-fosforibosil 1-pirofosfato alla purina. Differential diagnosis Differential diagnoses include cerebral palsy, other causes of intellectual deficit, dystonia and self-injury including autism, Tourette syndrome, Cornelia de Lange syndrome see these termsidiopathic intellectual deficit, and severe psychiatric disorders.

It is believed that the uricase degrading the the uric acid, produced large quantities of peroxide oxidants and metabolites, causing the accumulation of these by the shortage of antioxidant enzymes. Spasticity, hyperreflexia and extensor plantar reflex appear later. UAO may result in joint inflammation, gouty arthritis and urolithiasis. Dysarthria, dysphagia, and opisthotonus are frequent. Males are generally affected and heterozygous females are carriers usually asymptomatic. The documents contained in this web site are presented for information purposes only.

Gli anticorpi sono prodotti da cellule chiamate ibridomi.

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