Lesch-Nyhan
syndrome
It’s also known as juvenile gout. It’s a very
uncommon inherited disease due to the deficiency of the enzyme HGPRT.
SYMPTOMS:
It has 3 characteristic features: hyperuricemia,
neurological disorder and cognitive and behavioural disorders. Other symptoms are
macrocytic anaemia, testicular atrophy and gouty arthritis.
DIAGNOSIS:
It is mainly based on the clinical features. Urate
to creatinine ratio usually increases. Genetic testing can also be done.
TREATMENT:
Treatment is symptomatic. Allopurinol for gout,
lithotripsy for kidney stones, baclofen for spasm and levodepa for
neurologiacal symptoms can be used.
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