3-Hydroxyglutarate excretion is increased in ketotic patients: implications for glutaryl-CoA dehydrogenase deficiency testing.
Three patients with ketosis had increased excretion of 3-hydroxyglutarate (21.8-37.9 micromol/mmol creatinine; controls 2.3 +/- 1.6), an indicator of glutaryl-CoA dehydrogenase deficiency (GDHD), which normalized when the patients were nonketotic. Clinical assessment of all three patients and enzyme studies in one patient were not consistent with GDHD. These findings were compared with those of other ketotic patients, who showed statistically significant increases in 3-hydroxyglutarate excretion (9.4 +/- 5.0 micromol/mmol creatinine; p < 0.01), and with those of a child with confirmed GDHD when she was both ketotic and nonketotic. Secondary increase in 3-hydroxyglutarate excretion during ketosis is a potential confounder in the diagnosis of GDHD.
Pitt
J
J
Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Australia. jpitt@cryptic.rch.unimelb.edu.au
Carpenter
K
K
Wilcken
B
B
Boneh
A
A
D002675:Child, Preschool; D008401:Gas Chromatography-Mass Spectrometry; D005977:Glutarates / Q000652:urine*; D050770:Glutaryl-CoA Dehydrogenase; D006801:Humans; D007223:Infant; D007662:Ketosis / Q000652:urine; D008297:Male; D010088:Oxidoreductases / Q000172:deficiency*; D044925:Oxidoreductases Acting on CH-CH Group Donors; D014839:Vomiting
C108959:3-hydroxyglutaric acid; D005977:Glutarates; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; D050770:Glutaryl-CoA Dehydrogenase