Subscribe to RSS
Please copy the URL and add it into your RSS Feed Reader.
https://www.thieme-connect.de/rss/thieme/en/10.1055-s-00000041.xml
Neuropediatrics 1985; 16(2): 106-108
DOI: 10.1055/s-2008-1052552
DOI: 10.1055/s-2008-1052552
An Inborn Error of Purine Metabolism, Deafness and Neurodevelopmental Abnormality
Further Information
Publication History
Publication Date:
19 March 2008 (online)
Abstract
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.
Key words
Linked hyperuricemia - Neurodevelopmental abnormality - Deafness