Lesch-Nyhan disease
MIM.300322 Xq26-q27.2
Lesch-Nyhan disease is caused by mutation in the gene encoding hypoxanthine guanine phosphoribosyltransferase (HPRT) (MIM.308000).
X-linked recessive
Synopsis
short stature
growth retardation
vomiting
testicular atrophy
nephrolithiasis
gout
uric acid tophi
motor delay
hypotonia
self-injurious behavior, median onset age 2 years
extrapyramidal signs
choreoathetosis
dystonia
basal ganglia dysfunction
spasticity, hyperreflexia
opisthotonus
dysarthria
dysphagia
mental retardation (IQ 45-75)
delayed neurological development
self-mutilation
anemia
megaloblastic anemia
hyperuricemia
hyperuricosuria
Neonatal Lesch-Nyhan disease
acute renal failure
swollen, hot, red joints
tophi
transient neonatal hypothyroidism (8156315)
See also
uric acid (urate)