January 19, 2021

What is Lesch-Nyhan syndrome? – The province

What is Lesch-Nyhan syndrome? - The province


"Lesch-Nyhan syndrome is a disorder that is transmitted from father to son (hereditary), which affects how the body produces and breaks down purines. Purines are a normal part of human tissue and help to shape the body's genetic makeup. They are also found in different foods. "This is how medlineplus.gov describes this rare disease. "the self-destructive disease", because together with its many symptoms manifests neurological disorders that they force the patient to self-harm. They are aware of their self-aggression, but they can not help it despite not wanting to hurt themselves.

Pathology is a rare disease of hereditary character linked to a mutation of the X chromosome, so only men develop it, although women can be carriers.

It is a mutation that deprives the body of the enzyme necessary to metabolize purines, which is why the body accumulates high levels of uric acid, causes delays in the psychomotor development and usually leads the patient to compulsively bite the fingers and lips, as well as to self-harm in different ways. However, cWhen it is known that a mother is a carrier, there are tests They can detect during pregnancy whether the fetus has inherited that mutation and whether or not it will develop the disease.

This disease, included in the catalog of rare diseases, has no cure. The only thing that can be done by the patient is to try to alleviate the complications generated by uric acid in the kidneys; as well as preventing self-harm by preventing mobility with ties, buccal splints or containment.

An analysis of the level of uric acid in blood and urine is required to detect the disease. The Hospital de La Paz in Madrid is specialized in the prenatal diagnosis of this disease.


Source: Medical Care

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