General Info: People with Lesch-Nyhan fail to make one enzyme that is necessary for life. This enzyme breaks down uric acid so it can leave the body. Normally, people don't have much uric acid in the urine, but boys (99.9% of the time, it's boys) with Lesch-Nyhan can't break the crystals down. It keeps building up to toxic levels. While crystals are forming inside the urine, they're also forming in the joints, the kidneys and nerves. Toxic levels of uric acid are also affecting the brain, promoting bizarre behavior. Self-mutilation and retardation are common. Lip and finger biting, head banging and other self-destructive behaviors are regularly seen.
Chromosomal cause: X Linked recessive. This means the faulty gene is on the X chromosome. Girls get two copies of this chromosome, and if one is faulty, the other will compensate. Males only have one copy of the X, so if they get the faulty gene, they will have the trait for sure. This disease seems to affect all races and nationalities roughly equally.
Characteristics: First symptoms are noticed between one week and six months of age. There may be orange colored "sand" in the baby's diaper. These are crystals of uric acid. The baby may grow limp and be unable to lift his head. The child may arch his back strangely and will stop crawling and won't be able to walk. From here, the child starts the process of becoming more and more self-destructive. Some children start as young as two years, while others may not become destructive until eleven or twelve. Some never become destructive. Often, the younger a child starts, the more severe it is. There are more detailed accounts of some of these behaviors. There is no cure for Lesch-Nyhan. Life expectancy is in the mid-twenties for these boys.
Lesch-Nyhan Syndrome (Lesh Nye-an)
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