Health & body · 2002
Can complicate testing for ?
Yes. Patients with ketosis had increased excretion of , an indicator of glutaryl-CoA dehydrogenase deficiency, even when their clinical assessments were not consistent with the deficiency.
Details
Three patients with ketosis had increased excretion of 3-hydroxyglutarate, an indicator of glutaryl-CoA dehydrogenase deficiency (GDHD): 21.8–37.9 micromol/mmol creatinine, compared with 2.3 ± 1.6 in controls. Their excretion normalized when they were nonketotic.
Clinical assessment of all three patients and enzyme studies in one patient were not consistent with GDHD. The findings were compared with those of other ketotic patients, who had 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.
The researchers concluded that a secondary increase in 3-hydroxyglutarate excretion during ketosis could confound the diagnosis of GDHD.
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