Ornithine loading did not prevent induced hyperammonemia in a patient with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. 1985

O Simell, and S Mackenzie, and C L Clow, and C R Scriver

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.

UI MeSH Term Description Entries
D008297 Male Males
D009952 Ornithine An amino acid produced in the urea cycle by the splitting off of urea from arginine. 2,5-Diaminopentanoic Acid,Ornithine Dihydrochloride, (L)-Isomer,Ornithine Hydrochloride, (D)-Isomer,Ornithine Hydrochloride, (DL)-Isomer,Ornithine Hydrochloride, (L)-Isomer,Ornithine Monoacetate, (L)-Isomer,Ornithine Monohydrobromide, (L)-Isomer,Ornithine Monohydrochloride, (D)-Isomer,Ornithine Monohydrochloride, (DL)-Isomer,Ornithine Phosphate (1:1), (L)-Isomer,Ornithine Sulfate (1:1), (L)-Isomer,Ornithine, (D)-Isomer,Ornithine, (DL)-Isomer,Ornithine, (L)-Isomer,2,5 Diaminopentanoic Acid
D009963 Orotic Acid An intermediate product in PYRIMIDINE synthesis which plays a role in chemical conversions between DIHYDROFOLATE and TETRAHYDROFOLATE. Potassium Orotate,Sodium Orotate,Zinc Orotate,Acid, Orotic,Orotate, Potassium,Orotate, Sodium,Orotate, Zinc
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D002956 Citrulline
D003593 Cytoplasm The part of a cell that contains the CYTOSOL and small structures excluding the CELL NUCLEUS; MITOCHONDRIA; and large VACUOLES. (Glick, Glossary of Biochemistry and Molecular Biology, 1990) Protoplasm,Cytoplasms,Protoplasms
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000409 Alanine A non-essential amino acid that occurs in high levels in its free state in plasma. It is produced from pyruvate by transamination. It is involved in sugar and acid metabolism, increases IMMUNITY, and provides energy for muscle tissue, BRAIN, and the CENTRAL NERVOUS SYSTEM. Abufène,Alanine, L-Isomer,L-Alanine,Alanine, L Isomer,L Alanine,L-Isomer Alanine
D000592 Amino Acid Metabolism, Inborn Errors Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (e.g., ACIDOSIS) and neurologic manifestations. They are present at birth, although they may not become symptomatic until later in life. Amino Acidopathies, Congenital,Amino Acid Metabolism Disorders, Inborn,Amino Acid Metabolism, Inborn Error,Amino Acid Metabolism, Inherited Disorders,Amino Acidopathies, Inborn,Congenital Amino Acidopathies,Inborn Errors, Amino Acid Metabolism,Inherited Errors of Amino Acid Metabolism,Amino Acidopathy, Congenital,Amino Acidopathy, Inborn,Congenital Amino Acidopathy,Inborn Amino Acidopathies,Inborn Amino Acidopathy
D000596 Amino Acids Organic compounds that generally contain an amino (-NH2) and a carboxyl (-COOH) group. Twenty alpha-amino acids are the subunits which are polymerized to form proteins. Amino Acid,Acid, Amino,Acids, Amino

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