Lesch Nyhan Syndrome

What is Lesch Nyhan Syndrome ?

It is a hereditary disorder in which the individual severely lacks the enzyme that will create and break purines. The amount of purines in the body must be controlled in order to regulate the level of uric acid stored in the body. The syndrome causes kidney stones and inability to control one’s muscles. Furthermore, those with this disorder often develop an urge to hurt themselves.  Children are the most commonly afflicted by the syndrome.

The treatment for Lesch Nyhan Syndrome addresses the symptoms felt by the patients. It is also aimed at helping the patient stay hydrated and keeping the levels of uric acid within the normal range. Parents of the affected individuals should ensure to keep sharp objects out of their child’s reach so as to prevent the child from hurting himself. Patients of Lesch Nyhan Syndrome have self-destructive behavior and keeping sharp objects help prevent any untoward injury.

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Cause of Lesch Nyhan Syndrome

LNS occurs when the gene responsible in producing the enzyme that recycles purines mutate. This gene is known as HPRT1 gene which produces an enzyme called hypoxanthine phosphoribosyltransferase 1. Purines are essential in DNA and RNA production and recycling them is the most efficient way to ensure the constant supply of this building block. The inadequate supply of hypoxanthine phosphoribosyltransferase 1 enzyme causes the level of uric acid in the body to become abnormally high. Experts are yet to establish the connection between severe deficiency of hypoxanthine phosphoribosyltransferase 1 enzyme and behavioral problems experienced by LNS sufferers.

LNS is a genetic disorder, so it is not contagious. Genetic mutations occur in the X chromosomes. Studies showed that the disorder is more prevalent in men than women because males have only one X chromosome and a single defective gene is enough to set off the disorder. On the other hand, genetic mutations should occur in two X chromosomes to set off LNS in females and this is the reason why the condition rarely occurs in women.

Lesch Nyhan Syndrome symptoms

LNS affects the physical, behavioral and neurological state of the patient.

  • Physical manifestations

The most prominent symptom of LNS as a result of excess uric acid is gall bladder and kidney stones. This is often noted during the first few months of the child’s life as crystal-like orange-colored deposits in his diapers. The affected individual also has trouble swallowing food and likewise releases blood-tinged urine. Physical development is also delayed. Sufferers reach puberty much later and develop gout-like swelling in their joints.

  • Behavioral features

Children with LNS exhibit behavioral problems which become evident during the 2nd or 3rd year of life. Sufferers have been found to injure themselves physically and emotionally. This often starts out as biting the fingers and lips during childhood. Over time, self-hostility which is characterized by scratching the nose, thumping the legs and hurting the people around them become more pronounced. Emotional hostility, meanwhile, is typified by making inappropriate remarks, spitting, lying constantly and swearing.

  • Neurological symptoms

Neurological symptoms are incomprehensible during the early months of the child’s life. Children with the disorder learn to sit, turn, crawl and walk much later than normal kids do. Speech problems are also common. Moreover, the neurological symptoms mimic that of cerebral palsy.

Statistics of Lesch Nyhan Syndrome

LNS is a relatively rare disease, affecting around 1 out of 380,000 people. There is no racial predisposition as it occurs in most races equally. However, males are predisposed to LNS due to the X-linked pattern of inheritance. The disorder was named after Michael Lesch and Bill Nyhan who discovered and described the condition in 1964. Seegmiller found that the condition is caused by severe deficiency in hypoxanthine phosphorisbosyltransferase 1 enzyme in 1967, while Friedmann sequenced the gene encoding of hypoxanthine phosphorisbosyltransferase enzyme.

Diagnosis of Lesch Nyhan Syndrome

Diagnosing the disorder involves conducting a series of tests. The doctor will first perform physical examination and look for the physical symptoms of the disorder. Diagnostic tests like urine and blood tests are done to check the levels of uric acid, and skin biopsy to determine the level of hypoxanthine phosphorisbosyltransferase 1 enzyme. Enzyme testing usually confirms the diagnosis.

LNS prognosis is quite poor and patients often need wheelchairs to help them move around. A few of the sufferers live over 40 years old, but most of them die between their 20s and 30s. Mortality is often due to chronic nephrolithiasis, renal failure and aspiration pneumonia. Some die suddenly from unknown causes.

Treatment for Lesch Nyhan Syndrome

The treatment for Lesch Nyhan Syndrome aims to help the patient cope with the painful symptoms of the disorder. This may alleviate the accompanying physical symptoms but it cannot reverse the neurological and behavioral symptoms. People with a family history of LNS should opt for genetic testing to determine their risk of having a child with LNS.

Lesch Nyhan Syndrome pictures

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