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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
3
|
pubmed:dateCreated |
1990-12-5
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pubmed:abstractText |
Patients with 3-hydroxy-3-methylglutaric aciduria due to a deficiency of 3-hydroxy-3-methylglutaryl Coenzyme A lyase usually present with a life-threatening crisis of hypoglycemia, metabolic acidosis and hyperammonemia. Diagnosis of this inborn error of leucine degradation is usually based upon gas-chromatographic analysis of organic acids in a patient's urine. In this paper we describe a simple spectrophotometric method allowing the activity of HMG-CoA lyase to be measured in leukocytes or platelets within a few hours, thus contributing to a rapid, unequivocal diagnosis and subsequent treatment. The validity of the method was established by demonstrating a deficient activity of HMG-CoA lyase in two patients with 3-hydroxy-3-methylglutaric aciduria. Furthermore, using this method, heterozygote detection can be done with great reliability.
|
pubmed:language |
eng
|
pubmed:journal | |
pubmed:citationSubset |
IM
|
pubmed:chemical | |
pubmed:status |
MEDLINE
|
pubmed:month |
Aug
|
pubmed:issn |
0009-8981
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pubmed:author | |
pubmed:issnType |
Print
|
pubmed:day |
31
|
pubmed:volume |
189
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
327-34
|
pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:2225463-Blood Platelets,
pubmed-meshheading:2225463-Child, Preschool,
pubmed-meshheading:2225463-Female,
pubmed-meshheading:2225463-Humans,
pubmed-meshheading:2225463-Hydrogen-Ion Concentration,
pubmed-meshheading:2225463-Infant,
pubmed-meshheading:2225463-Infant, Newborn,
pubmed-meshheading:2225463-Leukocytes,
pubmed-meshheading:2225463-Male,
pubmed-meshheading:2225463-Metabolism, Inborn Errors,
pubmed-meshheading:2225463-Oxo-Acid-Lyases,
pubmed-meshheading:2225463-Spectrophotometry
|
pubmed:year |
1990
|
pubmed:articleTitle |
Rapid diagnosis of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency via enzyme activity measurements in leukocytes or platelets using a simple spectrophotometric method.
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pubmed:affiliation |
Department of Pediatrics, University Hospital Amsterdam, The Netherlands.
|
pubmed:publicationType |
Journal Article,
Case Reports
|