<unk><unk>  syndrome is first suspected when self-inflicted injury behavior develops. When an affected individual has fully developed the three clinical elements of uric acid overproduction, neurologic dysfunction, and cognitive and behavioral disturbances, diagnosis of LNS is easily made. It is, however, difficult to confirm diagnosis in early stages of disease progression, when treatment can potentially delay the development of above mentioned complications.
Lesch-Nyhan syndrome screening
Asperger syndrome screening
Fanconi syndrome screening
Fragile X syndrome screening
Scleroderma screening
Bornholm disease screening
Autoimmune polyendocrine syndrome screening
Multiple endocrine neoplasia type 1 screening