Clinical picture

Children with Lesch-Nyhan disease have a characteristic collection of problems. These problems are usually grouped into three main areas. The first of the problems involves overproduction of uric acid, leading to kidney stones and gout. More information on this problem can be found in the sections below.

The second problem involves developmental delay with subsequent neuromotor disability. The third problem area involves difficult behaviors. These problems are also described in more detail below.

Not everyone gets all of these problems. For example, the most mildly affected boys only have problems related to uric acid, but they lack neurological or behavioral problems. Others have problems related to uric acid and some neurological difficulties, but no behavioral problems. Those who lack problems in all three areas are known as Lesch-Nyhan variants.