Evidence of A New Syndrome Involving Hereditary Uric Acid Overproduction, Neurological Complications and Deafness
Hypoxanthiye-guanine phosphoribosyltransferase (HGPRT: EC 188.8.131.52) deficiency is an X-linked recessive disorder which may present in early infancy as the Lesch-Nyhan syndrome associated with gross purine overproduction, neurological abnormalities and bizarre self-mutilating behaviour. Less severe forms have been reported in adults with gouty arthritis and/or renal complications but a complete absence of neurological abnormalities1.
KeywordsUric Acid High Pressure Liquid Chromatography Gouty Arthritis Purine Nucleoside Phosphorylase Neurodevelopmental Abnormality
Unable to display preview. Download preview PDF.
- 1.W. N. Kelley and J. B. Wyngaarden. The Lesch-Nyhan syndrome, in: “The Metabolic Basis of Inherited Disease (4th edition), J. B. Stanbury, J. B. Wyngaarden, and D. S. Fredrickson, eds., McGraw-Hill, New York (1978).Google Scholar
- 3.M. A. Becker. Abnormalities of PRPP metabolism leading to an overproduction of uric acid. in: “Uric Acid”. W. N. Kelley and I. M. Weiner eds., Springer-Verlag, Berlin (1978).Google Scholar