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rdf:type |
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lifeskim:mentions |
|
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pubmed:issue |
10
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pubmed:dateCreated |
1979-12-29
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pubmed:abstractText |
The screening program directed towards a detection of patients with hereditary enzymopathy allowed to reveal 8 boys from 4-14 years with the Lesch-Nyhana syndrome. Among these children 4 were studied in detail clinically and biochemically. The study demonstrated that there were different degrees of mental retardation, autoagressive or agressive behaviour. The activity of erythrocyte hypoxanthinguanine phosphoribosyltransferase (HGPRT) in 2 cases was not changed, in 1-decreased and in 1--was absent. In 1 case of a decreased activity of hypoxanthinguanine phosphoribosyltransferase there was a drastic drop in the activity of adeninphosphoribosyltransferase (APRT). The study showed that there was a double increase in the cerruloplasmin activity in the blood plasma and of the cytochromoxydase in the leukocyte mitochondria. This indicates that the genetically determined drop in the HGPRT or APRT leads to disturbances in the other links of metabolism in the organism. The clinical manifestation of the disease due to a disturbed metabolism of biogen amines in the CNS is postulated.
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pubmed:language |
rus
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:issn |
0044-4588
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
79
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1379-85
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:227197-Adenine Phosphoribosyltransferase,
pubmed-meshheading:227197-Adolescent,
pubmed-meshheading:227197-Ceruloplasmin,
pubmed-meshheading:227197-Child,
pubmed-meshheading:227197-Child, Preschool,
pubmed-meshheading:227197-Electron Transport Complex IV,
pubmed-meshheading:227197-Erythrocytes,
pubmed-meshheading:227197-Humans,
pubmed-meshheading:227197-Hypoxanthine Phosphoribosyltransferase,
pubmed-meshheading:227197-Lesch-Nyhan Syndrome,
pubmed-meshheading:227197-Leukocytes,
pubmed-meshheading:227197-Male,
pubmed-meshheading:227197-Phosphoribosyl Pyrophosphate,
pubmed-meshheading:227197-Ribose-Phosphate Pyrophosphokinase,
pubmed-meshheading:227197-Synovial Fluid,
pubmed-meshheading:227197-Uric Acid
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pubmed:year |
1979
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pubmed:articleTitle |
[Clinical and biochemical heterogeneity of the Lesch-Nyhan syndrome].
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pubmed:publicationType |
Journal Article,
English Abstract
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