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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Uric acid is the end product of purine metabolism in man. The findings of human pathological levels of uric acid in serum and urine have in most patients serious clinical implications. This paper summarizes aspects of uric acid examination in clinical biochemistry laboratory. The clinical consequences of pathological levels of uric acid are shown. Uric acid is a useful diagnostic tool as screening for most of purine metabolic disorders. The importance of uric acid measurement in plasma and urine with respect of metabolic disorders is highlighted. Not only gout and renal stones are indications to send blood to the laboratory for uric acid examination. Also familial nephritis, neurological abnormalities with mental retardation are reasons to know uric acid levels in blood and urine. The results underline the importance of urinary uric acid investigation, which is often quite overlooked, and is helpful in differential diagnosis of gout. This work is dedicated to Professor Jan Horbaczewsky and his 110th anniversary of the opening of lessons in medical chemistry at the Czech medical faculty of Charles University in Prague.
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PMID:The importance of uric acid examination. 886 10

Down syndrome (DS) is a chromosomal abnormality (trisomy 21) associated with mental retardation and Alzheimer-like dementia, characteristic change of the individual's phenotype and premature ageing. Oxidative stress is known to play a major role in this pathology since a gene dose effect leads to elevated ratio of superoxide dismutase to catalase/glutathione peroxidase compared to controls in all age categories suggesting that oxidative imbalance contributes to the clinical manifestation of DS. Hyperuricemia is another feature of DS that has an interesting relationship with oxidative stress since uric acid represents an important free radical scavenger. However its formation is connected to the conversion of Xanthine dehydrogenase (XDH) to Xanthine oxidase (XO) which leads to concomitant production of free radicals. Here we report that plasma samples from DS patients in pediatric age, despite an increased total antioxidant capacity, largely due to elevated Uric acid content (UA), present significantly elevated markers of oxidative damage such as increased allantoin levels. Moreover DS plasma samples do not differ from healthy control ones in terms of Coenzyme Q10 and susceptibility to peroxidative stimuli. On the contrary, lymphocyte and platelet CoQ10 content was significantly lower in DS patients, a fact that might underlie oxidative imbalance at a cellular level.
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PMID:Coenzyme Q10 and oxidative imbalance in Down syndrome: biochemical and clinical aspects. 1909 12