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Glycerol Phenylbutyrate for the Maintenance Treatment of Patients With Deficiencies in Enzymes of the Urea Cycle [PDF]

Expert Opinion on Orphan Drugs, 2017
ABSTRACTIntroduction: Urea cycle disorders are rare inborn errors of metabolism resulting in the accumulation of ammonia. Over the last 3 decades, the use of alternative nitrogen excretion pathways has been exploited to improve survival and outcomes for urea cycle disorder patients.Areas covered: Early discovered nitrogen scavengers (sodium benzoate ...
Robert J Holt, Nicola Longo
exaly   +2 more sources

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Urea cycle disorder—argininosuccinic lyase deficiency

Special Care in Dentistry, 2012
ABSTRACTAn increased level of ammonia in the bloodstream, or hyperammonemia, is a symptom associated with metabolic disorders referred to as inborn errors of metabolism. Urea cycle disorder is a congenital abnormality or absence of one of the six enzymes involved in the elimination of ammonia.
Neeta, Mehta, Pia Chatterjee, Kirk, Ray, Holder, Harry V, Precheur   +3 more
openaire   +2 more sources

Pyruvate‐Carboxylase Deficiency with Urea Cycle Impairment

Acta Paediatrica, 1985
ABSTRACT. We report a case of pyruvate‐carboxylase deficiency (EC 6.4.1.1, McKusick 26615) with neonatal onset of lactic acidosis, hyperammonemia, and citrullinemia. The patient developed signs of severe liver damage and died at 13 days of age after increasing metabolic acidosis and severe bleedings.
J, Greter, J, Gustafsson, E, Holme
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Urea cycle operation in the arginine deficient rat

Biochemical Medicine, 1979
Abstract 1. 1. Differences in urea cycle enzymes, growth, and urinary metabolites occur in rats fed the urea cycle substrates arginine, ornithine, or citrulline. 2. 2. The orotic aciduria observed in rats fed a diet devoid of urea cycle substrates is not due to reduced urea cycle enzymatic activities. 3. 3.
Y H, Ha, J A, Milner
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Hyperammonemia Due to a Urea Cycle Enzyme Deficiency in Two Dogs

Journal of the American Veterinary Medical Association, 1975
SUMMARY Hyperammonemia in 2 dogs was associated with a deficiency of arginosuccinate synthetase, one of the enzymes of the urea cycle. The usual criteria for evaluation of hepatic function were normal.
Richard A Freedland, Dennis J Meyer, Donald R Strömbeck   +2 more
exaly   +3 more sources

Dysregulation of C/EBPα by Mutant Huntingtin Causes the Urea Cycle Deficiency in Huntington's Disease [PDF]

Human Molecular Genetics, 2007
Huntington's disease (HD) is an autosomal dominant neurodegenerative disease caused by a CAG trinucleotide expansion in the Huntingtin (Htt) gene. Using two mouse models of HD, we demonstrate that the urea cycle deficiency characterized by hyperammonemia, high blood citrulline and suppression of urea cycle enzymes is a prominent feature of HD.
Chin-San Liu, Bing-Wen Soong, Yijuang Chern   +2 more
exaly   +3 more sources

Characteristics of NO Cycle Coupling With Urea Cycle in Non-Hyperammonemic Carriers of Ornithine Transcarbamylase Deficiency

Molecular Genetics and Metabolism, 2013
Urea cycle deficient patients with prominent hyperammonemic often exhibit abnormal production of nitric oxide (NO), which reduces vascular tone, along with amino acid abnormalities. However, information related to the metabolic changes in heterozygotes of ornithine transcarbamylase deficiency (OTCD) lacking overt hyperammonemia is quite limited.
Tomoo Fujisawa, Hironori Nagasaka
exaly   +3 more sources

Plasma carnosinase deficiency in patients with urea cycle defects

Clinica Chimica Acta, 1975
A complete absence of plasma carnosinase activity was observed in a series of patients with proven urea cycle defects. This finding could not be explained by age of patients, low protein intake, or inhibition of the enzyme by glutamine or carbamyl phosphate.
E A, Burgess, V G, Oberholzer, T, Palmer, B, Levin   +3 more
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Urea-Cycle Enzyme Deficiencies and an Increased Nitrogen Load Producing Hyperammonemia in Reye's Syndrome

New England Journal of Medicine, 1976
Assay of urea-cycle enzymes in liver tissue showed ornithine transcarbamylase activities of 18 to 72 per cent of the normal mean in eight patients with Reye's syndrome, below the range of normal in seven of eight, and, in six cases, as low as those in females with X-linked deficiency of this enzyme.
G Robert Delong, Philip J. Snodgrass, P J Snodgrass   +2 more
exaly   +3 more sources

Urinary metabolites characteristic of urea-cycle amino acid deficiency

Metabolism, 1975
Experiments with 45-75-g male rats gave conclusive evidence that the simultaneous absence from the diet of arginine, ornithine, or citrulline caused an immediate and persistent elevation of orotic and citric acids in the urine. The experiments also demonstrated that a deficiency of no other individual amino acid increased urinary citrate and orotate ...
J A, Milner, W J, Visek
openaire   +2 more sources