Ornithine loading did not prevent induced hyperammonemia in a patient with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

Pediatr Res. 1985 Dec;19(12):1283-7. doi: 10.1203/00006450-198512000-00016.

Abstract

Impairment of urea cycle function in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome is presumably caused, in some patients, by deficient transport of ornithine from cytoplasm into mitochondria. We studied the effect of L-ornithine on L-alanine-induced hyperammonemia in a French-Canadian proband with the syndrome by giving: a 90-min intravenous alanine load (6.6 mmol/kg) together with ornithine (1.1 mmol/kg); an intravenous ornithine bolus (0.3 mmol/kg) followed by ornithine infusion (1.1 mmol/kg) 90 min prior to loading with alanine and ornithine; ornithine supplementation per os (1 g, four times daily X 2 wk) prior to loading with alanine and ornithine. Blood ammonia increased from high normal values to 975, 990, and 750 mumol/liter (normal less than 70) and urinary orotic acid from trace to 539, 494, and 1296 mumol/mmol creatinine (normal 5-11) after the respective loads. Plasma alanine peaked at 1.56-4.24 mmol/liter and ornithine at 1.29-1.95 mmol/liter, but other amino acids were stable. Therefore, ornithine loading did not protect this hyperornithinemia-hyperammonemia-homocitrullinuria patient from hyperammonemia induced by amino-nitrogen loading. Renal fraction excretion of citrulline, lysine, ornithine, glycine, alanine, and tyrosine increased more than 3-fold during ornithine priming, whereas all amino acids were excreted in excess after alanine + ornithine loads; homocitrulline excretion remained unchanged; some urine collections indicated "negative reabsorption" (i.e. apparent secretion) of lysine, histidine, and citrulline. Dietary supplementation with ornithine could deplete lysine pools by impairing lysine reabsorption.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alanine / pharmacology
  • Amino Acid Metabolism, Inborn Errors / drug therapy*
  • Amino Acid Metabolism, Inborn Errors / metabolism
  • Amino Acids / blood
  • Amino Acids / urine
  • Ammonia / blood*
  • Child
  • Citrulline / analogs & derivatives*
  • Citrulline / urine
  • Cytoplasm / metabolism
  • Humans
  • Male
  • Ornithine / blood*
  • Ornithine / metabolism
  • Ornithine / pharmacology
  • Orotic Acid / urine
  • Syndrome

Substances

  • Amino Acids
  • homocitrulline
  • Citrulline
  • Orotic Acid
  • Ammonia
  • Ornithine
  • Alanine