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Partial hypoxanthine-guanine phosphoribosyl transferase deficiency in two Korean siblings--a new mutation.

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Two Korean siblings with partial hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency are reported. The index patient was a boy aged 9 years 10 months who developed acute renal failure with a serum uric acid level of 25.9 mg/dl, after vomiting. The younger brother was asymptomatic but

Further studies on allopurinol-induced hyperuricaemia and visceral gout in red-tailed hawks (Buteo jamaicensis).

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To investigate the usefulness of allopurinol for the treatment of hyperuricemia in birds, experimental studies were performed using the physiologically occurring post-prandial hyperuricaemia in birds of prey as a model. Pre-and post-prandial plasma concentrations of allopurinol, oxypurinol,

[Determination of nucleosides in Rhizoma Pinelliae by high performance liquid chromatography].

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A high performance liquid chromatographic (HPLC) method was established to determine nucleosides in Rhizoma Pinelliae, which is a dried stem tuber of Pinellia pedatisecta Schott in Pinellia plant belonging to Araceae family and has multiple efficiencies about down-bear counterflow and check

Delayed emergence from propofol anesthesia in a patient with Lesch-Nyhan syndrome: A case report

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Rationale: Lesch-Nyhan syndrome (LNS) is an X-linked recessive disorder presenting with uric acid overproduction, neurocognitive disability, and behavioral disturbances. Inhalational anesthesia has been frequently used in LNS patients

[The Lesch-Nyhan syndrome].

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Deficiency of hypoxanthine phosphoribosyltransferase (HPRT) has a broad spectrum of clinical manifestations, from the complete enzyme defect, the Lesch-Nyhan syndrome with severe neurological deficiency to the partial defect associated only with uric acid overproduction and its consequences. We

Pharmacokinetics of 2',3'-dideoxyadenosine in dogs.

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The pharmacokinetics of 2',3'-dideoxyadenosine (ddAdo) and 2'-3'-dideoxyinosine (ddIno) were determined after intravenous bolus administration and long-term intravenous infusion of ddAdo in dogs. ddAdo was rapidly deaminated to ddIno and ddAdo plasma concentrations were only a fraction of ddIno

Classical xanthinuria: a rare cause of pediatric urolithiasis.

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Xanthine dehydrogenase catalyzes the oxidation of hypoxanthine to xanthine and xanthine to uric acid in the final two steps of the purine degradation process. Xanthine oxidase deficiency is an uncommon cause of pediatric urinary stone formation, and classical xanthinuria. A ten-month-old boy

Gout, uric acid and purine metabolism in paediatric nephrology.

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Although gout and hyperuricaemia are usually thought of as conditions of indulgent male middle age, in addition to the well-known uricosuria of the newborn, there is much of importance for the paediatric nephrologist in this field. Children and infants may present chronically with stones or acutely

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