Lesch–Nyhan syndrome

Lesch–Nyhan syndrome(LNS) is a very rare inherited disorder caused by a deficiency of hypoxanthine-guanine

phosphoribosyltransferase (HGPRT) enzyme. This enzyme is needed to break down purines (one of the components of
DNA and RNA). The HGPRT deficiency causes a build-up of uric acid in all body fluids. LNS is an X-linked recessive
disease carried by the female parent and passed on to a male child.

Symptoms
Lesch-Nyhan disease is a genetic disorder associated with 3 major clinical elements: overproduction of uric acid,
neurologic disability, and behavioral problems.

Overproduction of uric acid

 One of the first symptoms of the disease is the presence of sand-like crystals of uric acid in the diapers of the
affected infant. Overproduction of uric acid may lead to the development of uric acid crystals or stones in the
kidneys, ureters, or bladder.Such crystals deposited in joints later in the disease may produce gout-like
arthritis, with swelling and tenderness.The stones, or calculi, usually cause hematuria (blood in the urine) and
increase the risk of urinary tract infection.

Nervous system impairment

 The periods before and surrounding birth are typically normal in individuals with LNS. The most common
presenting features are abnormally decreased muscle tone (hypotonia) and developmental delay, which are
evident by three to six months of age. Affected individuals are late in sitting up, while most never crawl or
walk. Lack of speech is also a very common trait associated with LNS.

Compulsive self harm

 Uncontrollable self-injury associated with LNS usually begins at three years of age. The self-injury begins with
biting of the lips and tongue; as the disease progresses, affected individuals frequently develop finger biting
and headbanging.The self-injury can increase during times of stress.Despite the apparent pain generated by
the self-injury (pain perception appears to be normal in LNS).

Excessive lip biting and nail biting

 hypotonia (decreased muscle tone) Gouty arthritis

Xeroderma pigmentosa
Xeroderma pigmentosum (XP) is a hereditary condition characterized by extreme sun sensitivity, leading to a very high risk
of skin cancer and other medical problems. Mutations (alterations) in at least 8 different genes are known to play a role in
XP. People with XP are extremely sensitive to ultra-violet (UV) radiation from the sun.

XP is an autosomal recessive inherited disorder. This means you must have 2 copies of an abnormal gene in order for the
disorder to develop. The disorder is inherited from both male and female parents at the same time.

Symptoms/complications:

The sensitivity to UV radiation results in increased freckling, as well as areas of lighter skin pigmentation.
They may also have very dry skin. Exposure to even a very small amount of UV radiation leads to severe
sunburn and blistering, beginning at a very young age.
People with XP also commonly have eye problems, especially
with their eyelids. Like their skin, their eyes are also very
sensitive to light, which gives them a slightly increased risk of
cancer of the eye. Cancers of the lips, mouth, and the tip of the
tongue have also been reported.