Lesch-Nyhan Syndrome Flashcards
1
Q
What is it?
A
It is a rare metabolic disorder that occurs before birth, passed down mothers to sons, rarely affects girls.
2
Q
Prevalence
A
between 1:235,000 and 1:380,000
3
Q
Diagnoses
A
Evaluated by paediatrician, there is no cure
4
Q
Key characteristics
A
Uncontrolled self injury
Poor muscle control
Impaired kidney function
Affect dopamine levels
