An inborn error of purine metabolism, deafness and neurodevelopmental abnormality.
A syndrome of hyperuricemia, sensorineural deafness, mild mental handicap and congenital disequilibrium in a four-year-old boy is probably inherited as a sex-linked condition since his mother has sensorineural deafness and similar biochemical abnormalities. There is evidence of a superactive PP-ribose-P synthetase, normal purine salvage enzymes, and severe depletion of nicotinamide adenine dinucleotide and guanine triphosphate in red cells.
Simmonds
H A
HA
Webster
D R
DR
Lingam
S
S
Wilson
J
J
D003638:Deafness / Q000235:genetics*; D004912:Erythrocytes / Q000032:analysis; D005260:Female; D006160:Guanosine Triphosphate / Q000097:blood; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009243:NAD / Q000097:blood; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000097:blood / Q000235:genetics*; D012268:Ribose-Phosphate Pyrophosphokinase / Q000097:blood; D013577:Syndrome; D014527:Uric Acid / Q000097:blood*; D014960:X Chromosome
D009243:NAD; D014527:Uric Acid; D006160:Guanosine Triphosphate; D012268:Ribose-Phosphate Pyrophosphokinase