Extraction of glyceric and glycolic acids from urine with tetrahydrofuran: utility in detection of primary hyperoxaluria

Clin Chem. 1997 Aug;43(8 Pt 1):1315-20.

Abstract

Primary hyperoxaluria (PH) is an autosomal recessive metabolic abnormality characterized by excessive oxalate excretion leading to nephrocalcinosis and progressive renal dysfunction. Type I primary hyperoxaluria (PH I) results from a deficiency of alanine:glyoxylate aminotransferase, whereas type II disease has been traced to a deficiency of D-glycerate dehydrogenase. The two syndromes are often distinguished on the basis of organic acids that are coexcreted with oxalate: glycolate and L-glycerate in type I and type II disease, respectively. Routine organic acid analysis with diethyl ether extraction followed by gas chromatographic analysis failed to detect normal and increased concentrations of these diagnostic metabolites. Subsequent extraction of urine with tetrahydrofuran (THF), however, extracted 75% of added glycerate, 42% of added glycolate, and 75% of added ethylphosphonic acid (internal calibrator). THF extraction was analytically sensitive enough to allow determination of normal excretion of glycolate (14-72 micrograms/mg creatinine) and glycerate (0-5 years, 12-177 micrograms/mg creatinine and > 5 years, 19-115 micrograms/mg creatinine). Four of five patients with PH I and both patients with type II disease were correctly identified. Thus, THF extraction is a convenient adjunct to routine organic acid analysis and facilitates the detection of PH.

MeSH terms

  • Adolescent
  • Child
  • Child, Preschool
  • Chromatography, Gas
  • Creatinine / urine
  • Furans* / isolation & purification
  • Furans* / urine*
  • Glyceric Acids / urine*
  • Glycolates / isolation & purification
  • Glycolates / urine*
  • Humans
  • Hyperoxaluria, Primary / diagnosis*
  • Infant
  • Infant, Newborn
  • Oxalates / urine
  • Reference Values

Substances

  • Furans
  • Glyceric Acids
  • Glycolates
  • Oxalates
  • glycolic acid
  • tetrahydrofuran
  • glyceric acid
  • Creatinine