Tiglylglycine excreted in urine in disorders of isoleucine metabolism and the respiratory chain measured by stable isotope dilution GC-MS.

Abstract

Tiglyglycine (TG), an intermediate product of the catabolism of isoleucine, is increased in the urine of patients with beta-ketothiolase deficiency or with disorders of propionate metabolism. It is also implicated as a useful diagnostic marker in disorders of the respiratory chain. We present a method for the synthesis of TG and tiglyl[13C, 15N]glycine and the development of a stable isotope dilution mass spectrometric assay for TG. We compare data from controls with that from subjects with beta-ketothiolase deficiency and propionyl-CoA carboxylase deficiency, and with six patients with enzyme-confirmed disorders of the respiratory chain. TG was increased in the urine from all of the patient groups. The increased TG excretion did not persist in one patient with a respiratory chain defect, which suggests that, in some patients, multiple sample analysis may be necessary to identify a respiratory chain defect. This is the first urinary compound to be implicated as a potential marker of disorders of the respiratory chain.

• Authors: M J Bennett, S Powell, D J Swartling, K M Gibson
• Journal: Clinical chemistry (Clin Chem) Vol. 40 Issue 10 Pg. 1879-83 (Oct 1994) ISSN: 0009-9147 [Print] England
• PMID: 7923765 (Publication Type: Journal Article)

Chemical References

• Isoleucine
• tiglylglycine
• Acetyl-CoA C-Acyltransferase
• Glycine

Topics

• Acetyl-CoA C-Acyltransferase (deficiency)
• Adolescent
• Amino Acid Metabolism, Inborn Errors (urine)
• Child
• Child, Preschool
• Electron Transport
• Gas Chromatography-Mass Spectrometry (methods, statistics & numerical data)
• Glycine (analogs & derivatives, urine)
• Humans
• Infant
• Infant, Newborn
• Isoleucine (metabolism)