AN X-LINKED SYNDROME CHARACTERISED BY HYPERURICAEMIA, DEAFNESS, AND NEURODEVELOPMENTAL ABNORMALITIES

Purine overproduction, with normal levels of the purine salvage enzymes, has been found in a 3-year-old boy and his mother. Both have highfrequency hearing loss from infancy. The child is hypotonic and shows locomotor delay. Two male siblings with similar neurodevelopmental problems died in early ch...

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