Switch to
Predicate | Object |
---|---|
rdf:type | |
lifeskim:mentions | |
pubmed:issue |
6
|
pubmed:dateCreated |
1988-3-9
|
pubmed:abstractText |
A 6-month-old infant presented with failure to thrive, hyperuricaemia and renal insufficiency. The hyperuricaemia was due to uric acid over-production. The level of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) activity was found to be normal. However, a two-fold increase in the Km of the enzyme to hypoxanthine as well as in the Vmax values was observed. It seems therefore, that in cases of uric acid over-production, screening tests of HGPRT activity may be insufficient and additional kinetic properties of the enzyme should be tested.
|
pubmed:language |
eng
|
pubmed:journal | |
pubmed:citationSubset |
IM
|
pubmed:chemical | |
pubmed:status |
MEDLINE
|
pubmed:month |
Nov
|
pubmed:issn |
0340-6199
|
pubmed:author | |
pubmed:issnType |
Print
|
pubmed:volume |
146
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
595-7
|
pubmed:dateRevised |
2010-11-18
|
pubmed:meshHeading |
pubmed-meshheading:3428293-Acute Kidney Injury,
pubmed-meshheading:3428293-Consanguinity,
pubmed-meshheading:3428293-Failure to Thrive,
pubmed-meshheading:3428293-Humans,
pubmed-meshheading:3428293-Hypoxanthine Phosphoribosyltransferase,
pubmed-meshheading:3428293-Infant,
pubmed-meshheading:3428293-Kinetics,
pubmed-meshheading:3428293-Male,
pubmed-meshheading:3428293-Uric Acid
|
pubmed:year |
1987
|
pubmed:articleTitle |
Impaired kinetic properties of hypoxanthine-guanine phosphoribosyl transferase as a cause of uric acid nephropathy in early infancy.
|
pubmed:affiliation |
Department of Pediatrics, Bikur Cholim General Hospital, Jerusalem, Israel.
|
pubmed:publicationType |
Journal Article,
Case Reports
|