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Lesch-Nyhan disease

Brooks EM et aJ Molecular description of three macro-deletions and an Alu-Alu recombination-mediated duplication in the HPRT gene in four patients with Lesch-Nyhan disease. Mutat Res 2001 476 43. [Pg.302]

Jinnah, H. A., Jones, M. D., Wojcik, B. E. et al Influence of age and strain on striatal dopamine loss in a genetic mouse model of Lesch-Nyhan disease. J. Neurochem. 72 225-229,1999. [Pg.307]

In many cells, the capacity for de novo synthesis to supply purines and pyrimidines is insufficient, and the salvage pathway is essential for adequate nucleotide synthesis. In patients with Lesch-Nyhan disease, an enzyme for purine salvage (hypoxanthine guanine phosphoribosyl pyrophosphate transferase, HPRT) is absent. People with this genetic deficiency have CNS deterioration, mental retardation, and spastic cerebral palsy associated with compulsive self-mutilation, Cells in the basal ganglia of the brain (fine motor control) normally have very high HPRT activity. These patients also all have hyperuricemia because purines cannot be salvaged. [Pg.265]

Jinnah HA, Wojcik BE, Hunt M, Narang N, Lee KY, Goldstein M, Wamsley JK, Langlais PJ, Friedmann T (1994) Dopamine deficiency in a genetic mouse model of Lesch-Nyhan disease. J Neurosci 74 1164-1175. [Pg.289]

D. F. Wong, J.C. Harris, S. Naidu, F. Yokoi, S. Marenco, R.F. Dannals, H.T. Ravert, M. Vaster, A. Evans, O. Rousset, R. N. Bryan, A. Gjedde, M.J. Kuhar, and G.R. Breese. 1996. Dopamine transporters are markedly reduced in Lesch-Nyhan disease in vivo Proc. Natl. Acad. Sci. USA 93 5539-5543. (PubMed) (Full Text in PMC)... [Pg.1061]

Lesch-Nyhan Syndrome produces a tremendous overproduction of uric acid. The defect in Lesch-Nyhan disease is the gene for the enzyme HGPRT. The lack of HGPRT activity is virtually complete and the disease is X-linked recessive and thus limited to males. It has a very early age of on-set and is characterized by extremely aggressive behaviour that generally leads to self-mutilation. Initially... [Pg.382]

W. L. Nyhan and D. F. Wong New approaches to understanding Lesch-Nyhan disease. New England Journal of Medicine HA, 1602 (1996). [Pg.644]

A large range of abnormalities has been observed. In some cases no detectable enzyme is found in the red cells (D3). In other cases the amount of activity is about 30 of normal (Y3). Families have been reported with 1-3 of normal enzyme levels. No simple correlation between behavior and enzyme level is apparent. Some patients have concurrently elevated APRT, some do not. In some, but not in all, there is increased heat stability of the APRT. In one study (E2) eight patients from five kindreds were examined in detail. No correlation was found between clinical manifestations and the level of HPRT in red cell lysates. These authors seemed to find the line between partial deficiency gout and the symptoms of Lesch-Nyhan disease a question of degree, not of kind. [Pg.228]

Artificial cells have been used in hereditary enzyme defects, including our earliest use of a replacement for catalase in acatalasemic mice. This also has been studied for asparagine removal in the treatment of leukemia in animals."" We used phenylalanine ammonia lyase artificial cells in phenylketonuria rats." Later, we found an extensive enterore-circulation of amino acids in the intestine." This allows enzyme artificial cells to be used orally to selectively remove specific amino acids from the body, as in phenylketonuria." We also studied the oral administration of artificial cells containing xanthine oxidase." " This resulted in a decrease in systemic hypoxanthine in a pediatric patient with hypoxanthinuria (Lesch-Nyhan disease). [Pg.912]

Palmour, R.M., Goodyer, P., Reade, T., Chang, T.M.S. Microencapsulated xanthine oxidase as experimental therapy in Lesch-Nyhan disease. Lancet 1989, 2 (8664), 687-688. [Pg.915]

Lesch-Nyhan disease is an X-linked recessive disorder characterized by hyperuricemia, physical and mental retardation, choreo-athetosis, and compulsive self-mutilation. The disease is associated with absence of activity of an enzyme involved in purine metabolism, namely hypoxanthlne guanine phosphoribosyl transferase (HGPRT), and is believed to affect male only. We present here, however, an unusual case of a girl with the Lesch-Nyhan syndrome, whose mother is not heterozygous for a deficiency of the enzyme. [Pg.16]

In the biochemical analysis of patients with Lesch-Nyhan disease the activity of HPRT found in cell lysates does not always correlate with HPRT activity in the intact cell (1-3). Neither analysis consistently predicts the degree of neurologic impairment in the patient (4,5). [Pg.22]

The patient has a less severe clinical expression of the Lesch-Nyhan disease. Early development was somewhat delayed, as he did not sit until age one year and did not walk until 20 months of age. He had no words until two years of age. At age five he was extensively evaluated for developmental delay. He had slightly below normal intelligence and mild spasticity with a "cerebral palsy" gait. His reflexes were somewhat exaggerated and he could not perform rapid movements of the tongue. He was dysarthic and about 75 to 80% of his conversational speech could be understood. [Pg.22]

Rubin, C. S., Dancis, J., Yip, L. C., Nowinski, R. C. and Balis, M. E. 1971. Purification of IMP Pyrophosphate phosphoribosyl-transferases, catalytically incompetent enzymes in Lesch-Nyhan disease. Proc. Nat. Acad. Sci. 68 1461-1464. [Pg.408]

Several genetic defects have been recognized which have presented different levels of residual IMP pyrophosphorylase (HPRTase) activity and concomitant modifications of the clinical manifestations, The most extreme is Lesch-Nyhan disease with little or no detectable enzyme in the red cells and severe neurological damage, If the enzyme deficiency is less complete, there may be only overproduction of uric acid and gout. [Pg.195]

Two cousins, both males, presented with no detectable HPRTase activity in the erythrocytes but without the symptomatology of Lesch-Nyhan disease. However, leukocyte lysates retained about 15% of normal activity (Table 1). ... [Pg.198]

DAVIES, J. (1969). Elevated AMP pyrophosphorylase activity in congenital IMP pyrophosphorylase deficiency (Lesch-Nyhan disease. J. Lab. Clin. Med. 7 732-7 1. [Pg.297]

BALIS, M. E. Purification of IMP pyrophosphate phosphoribosyltransferases, catalytically incompetent enzymes in Lesch-Nyhan disease. Proc. Nat. Acad. Sci. [Pg.332]


See other pages where Lesch-Nyhan disease is mentioned: [Pg.467]    [Pg.307]    [Pg.48]    [Pg.729]    [Pg.998]    [Pg.213]    [Pg.222]    [Pg.224]    [Pg.226]    [Pg.230]    [Pg.231]    [Pg.232]    [Pg.245]    [Pg.245]    [Pg.245]    [Pg.176]    [Pg.186]    [Pg.195]    [Pg.211]    [Pg.59]   
See also in sourсe #XX -- [ Pg.467 ]




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