Lesch-Nyhan syndrome is a rare X-linked disease characterized by over-production of
uric acid and a central nervous system (CNS) disorder consisting of
mental retardation, spasticity, choreoathetosis, and a compulsive form of
self-mutilation. A deficiency in
hypoxanthine-
guanine phosphoribosyl
transferase (
HPRT) provides the underlying metabolic basis for this disease. A 12 month-old male baby who had orange crystals over the diapers since he was 3 months old was brought to our hospital due to developmental delay.
Mental retardation and
athetosis were also noted. Chemical analysis revealed
hyperuricemia (
uric acid 8.6 mg/dl). Urine routine showed microscopic
hematuria and
uric acid crystals. The activity of
HPRT in erythrocyte lysates of parents were both within normal limits, but that of the patient was very low (0.0547 nm/min/mg
protein, < 0.05% of control). His younger brother was born 2 months after this disorder diagnosed in this patient. The younger brother was noted to have
uric acid crystals over the diapers when he was 40 days old and
hyperuricemia (10.6 mg/dl) showed up later. He was also a case of
Lesch-Nyhan syndrome since the activity of
HPRT in erythrocyte lysates was also low (0.0327 nmol/min/mg
protein, < 0.05% of control). Further studies, including carrier detection and
deoxyribonucleic acid (
DNA) analysis, could be helpful for genetic counseling. This syndrome is rare among Chinese, and this may be due to underdiagnosis.