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 high-frequency hearing loss from infancy. The child is hypotonic and shows locomotor delay. Two male siblings with similar neurodevelopmental problems died in early childhood. Biochemical studies suggest a combined syndrome associated with a superactive PP-ribose-P synthetase which in its severest form may produce neurodevelopmental complications, as well as uric-acid overproduction. Severe depletion of erythrocyte nicotinamide adenine dinucleotide and guanosine triphosphate appears to be associated with the neurological abnormalities and may be useful in diagnosis.
D000228:Adenine Phosphoribosyltransferase / Q000235:genetics; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003638:Deafness / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000097:blood*; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009468:Neuromuscular Diseases / Q000235:genetics*; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000235:genetics*; D012268:Ribose-Phosphate Pyrophosphokinase / Q000235:genetics / Q000378:metabolism; D013577:Syndrome; D014527:Uric Acid / Q000097:blood*; D014960:X Chromosome
D014527:Uric Acid; D000228:Adenine Phosphoribosyltransferase; D007041:Hypoxanthine Phosphoribosyltransferase; D012268:Ribose-Phosphate Pyrophosphokinase