Linked Life Data

12127325

Source:http://linkedlifedata.com/resource/pubmed/id/12127325

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2002-7-19
pubmed:abstractText
We describe the rapid and sensitive detection of 4-hydroxybutyric acid, which is a marker compound for succinic semialdehyde dehydrogenase (SSADH) deficiency. Urinary 4-hydroxybutyric acid and 3,4-dihydroxybutyric acid were targeted, quantified by gas chromatography-mass spectrometry after simplified urease digestion in which lactone formation from gamma-hydroxy acids is minimized. The recovery of 4-hydroxybutyric acid using this method was over 93%. 2,2-Dimethylsuccinic acid was used as an internal standard. The detection limit of this method was 1 nmol ml(-1) for both 4-hydroxybutyric acid and 3,4-dihydroxybutyric acid. The urinary concentrations of 4-hydroxybutyric acid and of 3,4-dihydroxybutyric acid from the patient with an SSADH deficiency were 880-3628 mmol mol(-1) creatinine (control; 3.3+/-3.3 mmol mol(-1) creatinine) and 810-1366 mmol mol(-1) creatinine (control; 67.4+/-56.2 mmol mol(-1) creatinine), respectively. The simplified urease digestion of urine is very useful for quantifying 4-hydroxybutyric acid and its related compounds in patients with 4-hydroxybutyric aciduria.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
1570-0232
pubmed:author
pubmed:copyrightInfo
Copyright 2002 Elsevier Science B.V.
pubmed:issnType
Print
pubmed:day
25
pubmed:volume
776
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
57-63
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
2002
pubmed:articleTitle
Rapid and sensitive detection of urinary 4-hydroxybutyric acid and its related compounds by gas chromatography-mass spectrometry in a patient with succinic semialdehyde dehydrogenase deficiency.
pubmed:affiliation
Division of Human Genetics, Medical Research Institute, Kanazawa Medical University, 1-1 Daigaku, Uchinada-machi, Ishikawa 920-0293, Japan. shinka@kanazawa-med.ac.jp
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't