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Lesch-Nyhan Syndrome: What Are the Early Symptoms?

Updated on May 25, 2016
Autistic child.
Autistic child.

What is Lesch-Nyhan Syndrome?

Lesch–Nyhan syndrome (LNS), also known as Nyhan's syndrome, Kelley-Seegmiller syndrome, and juvenile gout, is a rare inborn genetic disorder caused by a mutation in the genetic material of a person.

The mutation happens when an error occurs during purine metabolism resulting to an absence or deficiency of the enzyme called hypoxanthine-guanine phosphoribosyltransferase (HPRT) located on the X chromosome.

Purines are fundamental nitrogenous compounds that make-up the genetic blueprint and crucial in protein production, and its erroneous synthesis would alter the processes in the body.

Three of the most prevalent Lesch-nyhan syndrome symptoms are neurological disabilities, behavioral abnormalities, and the overproduction of uric acid. Uric acid being the waste product of purine that causes urate crystals to accumulate in the joints and kidneys when in excess.

Can it Be Inherited?

Lesch-nyhan syndrome symptoms is mostly seen in men because this condition almost only occur in men due to its X-linked recessive pattern, or the occurrence of mutation in the X chromosome of a person. A male has one X chromosome, and a single alteration of this is enough to cause LNS.

Meanwhile, women have two X chromosome, and alteration of both genes is very unlikely, however, they are the carriers of this condition, which would then be passed to a male child.

What Are the Symptoms?

Since LNS is an inborn condition, early lesch-nyhan syndrome symptoms could be observed as early as infancy. The following are the five earliest lesch-nyhan syndrome symptoms:

  1. Patients with this condition appear normal at birth. Psychomotor delay becomes evident within 3 to 6 months with a delay in head support and sitting, hypotonia or being a “rag doll” and uncontrollable writhing movements.
  2. At exactly 6 months old, sandy urine, or “orange sands”, appear in diapers which obscures the urinary tract, and causes bleeding. This is due to the high uric acid, or hyperuricemia, which produces urate stones that develops in the kidney of infants. Excessive amount of uric acid that crystalizes into urates may also be found in the joints, forming gout, causing some discomfort which might become intolerable during teenage years. This is one the first major lesch-nyhan syndrome symptoms, and should immediately be consulted to a doctor.
  3. From 6-8 months old, due to the impairment of the nervous system, the infant would have severe muscular spasms, and abnormal posture, and hypotonia leading to an inability to crawl, stand up, and walk (development delay), partnered with some involuntary movements.
  4. Before reaching 12 months old, the child would now show moderate intelligence deficit, and mental retardation. Accurate evaluation of this is difficult due to the lack of speaking abilities of the child and the poor function of the cognitive abilities.
  5. When the child reaches 12 months old, self-mutilation would be evident, and this is considered as the most striking lesch-nyhan syndrome symptom. This would be an obsessive-compulsive behavior of lip biting, head banging, and finger chewing. Aggressive behavior such as vomiting and spitting on family members would also become evident in this stage.

How to Treat This?

Other lesch-nyhan syndrome symptoms may occur during the teenage years of the patient. As of now, there is no effective treatment for the neurological, and behavioral deficiencies, but removal of urate crystals by lowering the uric acid build-up could be treated with allopurinol, which is generally effective in limiting hyperuricemia and its consequences, and of course, hydration.

There may be lack of cure, but most patients live into adulthood. Unfortunately, infections, and organ failure lead to death, resulting to a very few number of patients that could survive beyond 40 years old.

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