Potential misdiagnosis of 3-methylcrotonyl-coenzyme A carboxylase deficiency associated with absent or trace urinary 3-methylcrotonylglycine

Pediatrics

Volumn 120, Issue 5, 2007, Pages

  Wolfe, Lynne A ^a   Finegold, David N ^a   Vockley, Jerry ^a   Walters, Nicole ^a   Chambaz, Celine ^b   Suormala, Terttu ^c   Koch, Hans Georg ^d   Matern, Dietrich ^e   Barshop, Bruce A ^f   Cropchod, Lorna J ^a   Baumgartner, Matthias R ^b   Gibson, K Michael ^a  

^a CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

^b UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^c UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^d Child Hosp   (Germany)

^e Mayo Clinic   (United States)

^f UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

3 HIVA; 3 hydroxyisovaleric acid; 3 MCC; 3 MCG; 3 methylcrotonyl coenzyme A carboxylase deficiency; 3 methylcrotonylglycinuria; C5 hydroxylacylcarnitine; C5 OH carnitine; Newborn screening; Organic acids; Tandem mass spectrometry

Indexed keywords

3 HYDROXYISOVALERIC ACID; 3 METHYLCROTONOYL COENZYME A; 5 CARBON HYDROXYCARNITINE; CARNITINE DERIVATIVE; METHYLCROTONOYL COENZYME A CARBOXYLASE; UNCLASSIFIED DRUG;

3 METHYLCROTONYL COENZYME A CARBOXYLASE DEFICIENCY; ARTICLE; CONTROLLED STUDY; DISEASE MARKER; ENZYME DEFICIENCY; FIBROBLAST CULTURE; GAS CHROMATOGRAPHY; GENE; GENE MUTATION; HETEROZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; LABORATORY DIAGNOSIS; MASS SPECTROMETRY; MCCA GENE; MCCB GENE; MISSENSE MUTATION; NEWBORN SCREENING; PRIORITY JOURNAL; TRISOMY 21; URINALYSIS;

CARBON-CARBON LIGASES; CHILD; DIAGNOSTIC ERRORS; FEMALE; GLYCINE; HUMANS; INFANT; METABOLISM, INBORN ERRORS; MUTATION, MISSENSE;

EID: 36048959802     PISSN: 00314005     EISSN: 02105721     Source Type: Journal    
DOI: 10.1542/peds.2007-0674     Document Type: Article

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