3-Hydroxyglutarate excretion is increased in ketotic patients: Implications for glutaryl-CoA dehydrogenase deficiency testing

Journal of Inherited Metabolic Disease

Volumn 25, Issue 2, 2002, Pages 83-88

  Pitt, J ^a   Carpenter, K ^b   Wilcken, B ^b   Boneh, A ^a  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b NSW Biochemical Genetics Service   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

3 HYDROXYGLUTARIC ACID; CREATININE; GLUTARIC ACID DERIVATIVE; GLUTARYL COENZYME A DEHYDROGENASE; UNCLASSIFIED DRUG; 3-HYDROXYGLUTARIC ACID; OXIDOREDUCTASE;

ACIDURIA; ARTICLE; CASE REPORT; CHILD; CLINICAL EXAMINATION; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; CREATININE URINE LEVEL; DIAGNOSTIC TEST; DIAGNOSTIC VALUE; DISEASE MARKER; FEMALE; GLUTARYL COENZYME A DEHYDROGENASE DEFICIENCY; HUMAN; INFANT; KETOACIDOSIS; MALE; STATISTICAL SIGNIFICANCE; URINARY EXCRETION; MASS FRAGMENTOGRAPHY; PRESCHOOL CHILD; URINE; VOMITING;

CASE REPORT; CHILD, PRESCHOOL; GLUTARATES; HUMAN; INFANT; KETOSIS; MALE; MASS FRAGMENTOGRAPHY; OXIDOREDUCTASES; VOMITING; GAS CHROMATOGRAPHY-MASS SPECTROMETRY; GLUTARYL-COA DEHYDROGENASE; HUMANS; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS;

EID: 0035987957     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1015654608166     Document Type: Article

References (13)

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