hyperargininemia/arginine

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Leathanach 1 ó 129 torthaí

Argininemia and plasma arginine bioavailability - predictive factors of mortality in the severe trauma patients?

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Logáil Isteach / Cláraigh

BACKGROUND Arginine is an amino acid determinant in the metabolic, immune and reparative responses to severe trauma. The present study aims to determine argininemia and plasma arginine bioavailability (PAB) in critical trauma patients and to analyze its correlation with prognosis. METHODS A

Measurement of arginine transport in human erythrocytes using their intrinsic arginase activity: implications for the treatment of familial hyperargininemia.

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Logáil Isteach / Cláraigh

A procedure making use of the intracellular arginase activity has been developed for measuring the transport of arginine across the human erythrocyte membrane. (1) The arginine translocation is carrier mediated with simple Michaelis-Menten kinetics, showing one high affinity, low capacity transport

Arginase and free amino acids in hyperargininemia: leukocyte arginine as a diagnostic parameter for heterozygotes.

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Logáil Isteach / Cláraigh

Arginase activity and free amino acids were measured in plasma, erythrocytes and leukocytes of patients with hyperargininemia and in controls. There is no arginase activity in the leukocytes and erythrocytes of homozygous patients; in heterozygotes it is normal to low. The activity is 50 to 100

Human recombinant arginase enzyme reduces plasma arginine in mouse models of arginase deficiency.

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Logáil Isteach / Cláraigh

Arginase deficiency is caused by deficiency of arginase 1 (ARG1), a urea cycle enzyme that converts arginine to ornithine. Clinical features of arginase deficiency include elevated plasma arginine levels, spastic diplegia, intellectual disability, seizures and growth deficiency. Unlike other urea

Case Report of Argininemia: The Utility of the Arginine/Ornithine Ratio for Newborn Screening (NBS).

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Logáil Isteach / Cláraigh

We describe a case of Argininemia detected by Michigan Newborn Screening (NBS). The Secretary's Advisory Committee on Heritable Disorders in Newborns and Children recommends that every MS/MS newborn screening program include Argininemia as part of their uniform screening panel. While affected

Hyperargininemia and renal oxidative stress: Prevention by antioxidants and NG -nitro-l-arginine methyl ester.

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Logáil Isteach / Cláraigh

We investigated the in vitro and in vivo effects of arginine (Arg) on thiobarbituric acid-reactive substances (TBA-RS) and on the activities of catalase (CAT), glutathione peroxidase (GSH-Px), and superoxide dismutase (SOD) in renal tissues of rats. We also studied the influence of antioxidants

Treatment of hyperargininemia with sodium benzoate and arginine-restricted diet.

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Logáil Isteach / Cláraigh

Arginase deficiency in Macaca fascicularis. I. Arginase activity and arginine concentration in erythrocytes and liver.

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Logáil Isteach / Cláraigh

Mouse model for human arginase deficiency.

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Logáil Isteach / Cláraigh

Deficiency of liver arginase (AI) causes hyperargininemia (OMIM 207800), a disorder characterized by progressive mental impairment, growth retardation, and spasticity and punctuated by sometimes fatal episodes of hyperammonemia. We constructed a knockout mouse strain carrying a nonfunctional AI gene

Epilepsia partialis continua and generalized nonconvulsive status epilepticus during the course of argininemia: a report on two cases.

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Logáil Isteach / Cláraigh

Argininemia is a rare inherited disorder of the urea cycle because of a deficiency of the enzyme arginase I causing an increase of arginine and guanidino compounds in the blood, urine, and cerebrospinal fluid. The clinical picture is characterized by a mild cognitive dysfunction, progressive

Treatment of hyperargininaemia due to arginase deficiency with a chemically defined diet.

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Logáil Isteach / Cláraigh

A brother and sister aged 11 and 17 years have been reported previously to have hyperargininaemia and arginase deficiency: they were treated with a semi-synthetic diet consisting of fat, carbohydrate, minerals, vitamins and essential amino acids in amounts equivalent to 0.55-0.65 g protein kg-1

Arginine administration reduces creatine kinase activity in rat cerebellum.

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Logáil Isteach / Cláraigh

In the present study were evaluated the in vivo effects of arginine administration on creatine kinase (CK) activity in cerebellum of rats. We also tested the influence of antioxidants, namely alpha-tocopherol and ascorbic acid and the nitric oxide synthase inhibitor, N(omega)-nitro-L-arginine methyl

Arginase Deficiency

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Logáil Isteach / Cláraigh

rong class="sub-title">Clinical characteristics:rong> Arginase deficiency in untreated individuals is characterized by episodic hyperammonemia of variable degree that is infrequently severe enough to be life threatening or to cause death. Most commonly, birth and early childhood are normal.

Argininemia presenting with progressive spastic diplegia.

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Logáil Isteach / Cláraigh

Argininemia is caused by a deficiency of arginase 1, which catalyzes the final step in the urea cycle, i.e., the cytosolic hydrolysis of arginine to ornithine and urea. In contrast to other urea cycle disorders, hyperammonemic encephalopathy is rarely observed in patients with argininemia. Rather,

Orotic acid excretion and arginine metabolism.

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Logáil Isteach / Cláraigh

The urinary excretion of orotic acid, an intermediate in the pyrimidine biosynthetic pathway, is markedly increased in many inborn errors of the urea cycle and in a number of other disorders involving arginine metabolism. Carbamoyl phosphate, which accumulates within hepatic mitochondria in patients

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