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Neuropediatrics 1985; 16(2): 106-108
DOI: 10.1055/s-2008-1052552
© Georg Thieme Verlag KG Stuttgart · New York

An Inborn Error of Purine Metabolism, Deafness and Neurodevelopmental Abnormality

H. A. Simmonds1 , D. R. Webster1 , S.  Lingam2 , J.  Wilson2
  • 1The Purine Laboratory, Guy's Hospital, London, Great Britain
  • 2Hospital for Sick Children, Great Ormond Street, London, Great Britain
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Publication History

Publication Date:
19 March 2008 (online)

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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

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