Pascual-Castroviejo, J. Hypoxanthine-guanine phosphoribosyltransferase HPRT deficiency is characterized by an increase in renal uric acid excretion, usually with hyperuricemia and may be associated with more or less important neurological symptoms. Based on a series of 20 patients from 16 Spanish families we propose that HPRT deficiency could be clinically classified in four different groups. In the more severe form classic Lesch-Nyhan syndrome HPRT deficiency is characterized by choreoathetosis, spasticity, mental retardation and compulsive self-mutilation behavior. The pathophysiology of the neurological symptoms remains unclear and there is no effective therapy.
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Females who have one mutated copy of the responsible gene on one of their X chromosomes usually do not have the condition and are referred to as carriers. This is because they still have a working copy of the responsible gene on their other X chromosome. Males with one mutated copy of the responsible gene have signs and symptoms of the condition they are affected because they do not have another X chromosome with a working copy of the gene.
This is why X-linked recessive disorders, including Lesch Nyhan syndrome, occur much more frequently in males. This is because a carrier female will randomly pass on one of her X chromosome to each child. Sons who inherit the mutated gene will be affected, and daughters who inherit the mutated gene will be carriers. The following resources provide information relating to diagnosis and testing for this condition.
If you have questions about getting a diagnosis, you should contact a healthcare professional. The intended audience for the GTR is health care providers and researchers.
Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. Listen If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals.
You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
They may be able to refer you to someone they know through conferences or research efforts. You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
Healthcare Resources To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself.
Listen Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease. Conditions with similar signs and symptoms from Orphanet Differential diagnoses include cerebral palsy, other causes of intellectual deficit, dystonia and self-injury including autism, Tourette syndrome, Cornelia de Lange syndrome see these terms , idiopathic intellectual deficit, and severe psychiatric disorders.
Enfermedad de Lesch-Nyhan
En los recin nacidos, el nivel de bilirrubina son ms altos durante los primeros das de vida. El proveedor de atencin mdica de su hijo debe considerar lo siguiente al decidir si el nivel de bilirrubina de su beb est demasiado alto: Si el beb naci prematuro La edad del beb La ictericia tambin puede ocurrir cuando se descomponen ms glbulos rojos de lo normal. Esto puede ser causado por: Un trastorno en la sangre llamado eritroblastosis fetal Un trastorno en los glbulos rojos llamado anemia hemoltica Los siguientes problemas con la vescula biliar o las vas biliares pueden causar niveles de bilirrubina ms altos: Estrechamiento anormal del conducto biliar comn estenosis biliar Cncer del pncreas o de la vescula biliar Clculos biliares Aminocidos involucrados en la sntesis de creatinina La creatinina es un compuesto orgnico generado a partir de la degradacin de la creatina que es un nutriente til para los msculos. Es un producto de desecho del metabolismo normal de los msculos que usualmente es producida por el cuerpo en una tasa muy constante dependiendo de la masa de los msculos , y normalmente filtrada por los riones y excretada en la orina. La medicin de la creatinina es la manera ms simple de monitorizar la correcta funcin de los riones. La creatinina es una molcula de deshecho que se genera a partir del metabolismo muscular.
Síndrome de Lesch-Nyhan