title: Evaluation of urinary acylglycines by electrospray tandem mass spectrometry in mitochondrial energy metabolism defects and organic acidurias.
abstract: We analyzed the urinary acylglycine excretion in 26 patients with mitochondrial energy metabolism disorders and in 55 patients with organic acidurias by electrospray tandem mass spectrometry (ESI-MS/MS), monitoring precursor ions of m/z 90. Urinary concentrations of the different acylglycines were quantified using deuterated internal standards. Normal values for the most important acylglycines were established. In MCAD and MAD (neonatal form) deficiencies, typical excretion patterns of urinary acylglycines were found in all the samples. In isovaleric aciduria, propionic aciduria, and 3-methylcrotonylglycinuria typical glycine conjugates were always found. Methylmalonic aciduria (mutase deficiency), multiple carboxylase deficiency, and 3-hydroxy-3-methylglutaric aciduria revealed pathological acylglycine profiles, even if not specific for the disease. In all these diseases acylglycine excretion seems to be less influenced by the clinical status than organic acid excretion. This method is a useful diagnostic tool for these metabolic disorders, complementary to organic acids and acylcarnitine profiles.
authors.affiliation: Department of Pediatrics, University of Zurich, Switzerland.
authors.forename: L
authors.initials: L
authors.lastname: Bonafé
authors.forename: H
authors.initials: H
authors.lastname: Troxler
authors.forename: T
authors.initials: T
authors.lastname: Kuster
authors.forename: C W
authors.initials: CW
authors.lastname: Heizmann
authors.forename: N A
authors.initials: NA
authors.lastname: Chamoles
authors.forename: A B
authors.initials: AB
authors.lastname: Burlina
authors.forename: N
authors.initials: N
authors.lastname: Blau
mesh_terms: D042964:Acyl-CoA Dehydrogenase; D000293:Adolescent; D000328:Adult; D000581:Amidohydrolases / Q000172:deficiency; D043523:Biotinidase; D019731:Carbon-Nitrogen Ligases / Q000172:deficiency; D002648:Child; D002675:Child, Preschool; D044943:Fatty Acid Desaturases / Q000172:deficiency; D005998:Glycine / Q000031:analogs & derivatives / Q000652:urine*; D045782:Hemiterpenes; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D013058:Mass Spectrometry / Q000379:methods*; D015093:Meglutol / Q000652:urine; D008661:Metabolism, Inborn Errors / Q000201:enzymology / Q000652:urine*; D008764:Methylmalonic Acid / Q000652:urine; D008928:Mitochondria / Q000378:metabolism* / Q000473:pathology; D010421:Pentanoic Acids / Q000652:urine; D011422:Propionates / Q000652:urine
chemical_list: D045782:Hemiterpenes; D010421:Pentanoic Acids; D011422:Propionates; C008216:isovaleric acid; D008764:Methylmalonic Acid; D015093:Meglutol; D044943:Fatty Acid Desaturases; D042964:Acyl-CoA Dehydrogenase; D000581:Amidohydrolases; D043523:Biotinidase; D019731:Carbon-Nitrogen Ligases; C023312:holocarboxylase synthetases; C029658:propionic acid; D005998:Glycine