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The identification of ( E )‐2‐methylglutaconic acid, a new isoleucine metabolite, in the urine of patients with β‐ketothiolase deficiency, propionic acidaemia and methylmalonic acidaemia
Author(s) -
Duran M.,
Bruinvis L.,
Ketting D.,
Kamerling J. P.,
Wadman S. K.,
Schutgens R. B. H.
Publication year - 1982
Publication title -
biomedical mass spectrometry
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.475
H-Index - 121
eISSN - 1096-9888
pISSN - 0306-042X
DOI - 10.1002/bms.1200090102
Subject(s) - urine , methylmalonic acid , metabolite , methylmalonic acidemia , isoleucine , propionic acidemia , chemistry , carboxylation , chromatography , biochemistry , endocrinology , medicine , amino acid , leucine , vitamin b12 , catalysis
The identification of ( E )‐2‐methylglutaconic acid, a ‘new’ metabolite of isoleucine, is described. The substance was detected in urine samples from patients with propionic acidaemia, methylmalonic acidaemia and so‐called β‐ketothiolase deficiency; in the majority of cases together with N ‐tiglylglycine. ( E )‐2‐Methylglutaconic acid is thought to be the end product of the 3‐methylcrotonyl‐CoA carboxylase‐catalysed carboxylation of tiglyl‐CoA. Prerequisites for the quantitative gas chromatographic analysis of the unstable 2‐ (and 3‐) methylglutaconic acid ditrimethylsilyl ester are given.