ornithine carbamoyltransferase deficiency disease/arginine

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Effects of arginine treatment on nutrition, growth and urea cycle function in seven Japanese boys with late-onset ornithine transcarbamylase deficiency.

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Prijava / prijava

BACKGROUND The aim of this study was to investigate the effects of arginine on nutrition, growth and urea cycle function in boys with late-onset ornithine transcarbamylase deficiency (OTCD). Seven Japanese boys with late-onset OTCD enrolled in this study resumed arginine treatment after the

Intravenous arginine dramatically improved hyperammonemia in a patient with late-onset ornithine transcarbamylase deficiency.

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Prijava / prijava

We describe a 12 year-old male patient with late-onset ornithine transcarbamylase deficiency, in whom infusion of arginine alone dramatically improved intercurrent hyperammonemia. The plasma glutamine level also decreased while the urea nitrogen level increased with arginine infusion, indicating

Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency.

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Prijava / prijava

Point mutations in the X-linked ornithine transcarbamylase (OTC) gene have been detected at the same Taq I restriction site in 3 of 24 unrelated probands with OTC deficiency. A de novo mutation could be traced in all three families to an individual in a prior generation, confirming independent

Ornithine transcarbamylase deficiency in a male: strict correlation between metabolic control and plasma arginine concentration.

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Prijava / prijava

In a male with a partial defect of ornithine transcarbamylase (OTC) we observed that maintenance of arginine supply was crucial for adequate metabolic control in conjunction with a low protein diet. The arginine supplement had to be given such that the concentrations of arginine and ornithine in

Ornithine transcarbamylase deficiency. Unsuccessful therapy of neonatal hyperammonemia with N-carbamyl-L-glutamate and L-arginine.

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Prijava / prijava

Arginine, an indispensable amino acid for patients with inborn errors of urea synthesis.

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Prijava / prijava

The role of arginine as an essential amino was evaluated in four children with one of the deficiencies of carbamyl phosphate synthetase, ornithine transcarbamylase, argininosuccinate synthetase, and argininosuccinase. Within 15-68 h after arginine deprivation nitrogen accumulated as ammonium or

Hyperammonemia in a Woman with Late-onset Ornithine Transcarbamylase Deficiency.

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Prijava / prijava

A 52-year-old woman developed vomiting and disturbance of consciousness after consuming raw fish and sushi on a trip. A blood test showed hyperammonemia (310 μg/dL) with a normal liver function. She fell into a deep coma, and her serum ammonia level increased to 684 μg/dL. L-arginine was

Hyperammonemia in a patient with late-onset ornithine carbamoyltransferase deficiency.

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Prijava / prijava

Ornithine carbamoyltransferase (OTC) deficiency is a urea cycle disorder that causes the accumulation of ammonia, which can lead to encephalopathy. Adults presenting with hyperammonemia who are subsequently diagnosed with urea cycle disorders are rare. Herein, we report a case of a late-onset OTC

Ornithine transcarbamylase deficiency: a possible risk factor for thrombosis.

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Prijava / prijava

Ornithine transcarbamylase (OTC) deficiency is the most common urea cycle defect. Thromboembolic complications have not heretofore been linked with this diagnosis. We describe four patients with neonatal-onset OTC deficiency who developed vascular thromboses. One patient had arterial thrombosis; the

Prenatal treatment of ornithine transcarbamylase deficiency.

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Prijava / prijava

Patients with neonatal urea cycle defects (UCDs) typically experience severe hyperammonemia during the first days of life, which results in serious neurological injury or death. Long-term prognosis despite optimal pharmacological and dietary therapy is still poor. The combination of intravenous

The role of orthotopic liver transplantation in the treatment of ornithine transcarbamylase deficiency.

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Prijava / prijava

The purpose of this study was to combine our clinical experience with a review of the literature to determine the value of orthotopic liver transplantation in the treatment of both boys and girls with ornithine transcarbamylase deficiency. Three boys younger than 1 year of age with symptomatic

Late-onset ornithine transcarbamylase deficiency: a rare cause of recurrent abnormal behavior in adults

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Prijava / prijava

rong class="sub-title"> Background: rong> Ornithine transcarbamylase is an enzyme of the urea cycle, which produces urea from ammonia. Although ornithine transcarbamylase deficiency mainly occurs as a severe neonatal-onset disease, a late-onset form that could become

Clinical and biochemical characteristics of patients with ornithine transcarbamylase deficiency

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Prijava / prijava

rong class="sub-title"> Background: rong> Ornithine transcarbamylase deficiency (OTCD) is pleomorphic congenital hyperammonemia, in which the prognosis of the patient is determined both by genotype and environmental factors. This study investigated the clinical and

Postchemotherapy hyperammonemic encephalopathy emulating ornithine transcarbamoylase (OTC) deficiency.

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Prijava / prijava

A young patient with hepatocellular carcinoma receiving chemotherapy presented with encephalopathy. Evaluation of the patient revealed a metabolic profile consistent with ornithine transcarbamoylase (OTC) deficiency, an inherited disorder of the urea cycle. The evaluation yielded a plasma amino acid

Cryptogenic hepatitis masking the diagnosis of ornithine transcarbamylase deficiency.

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Prijava / prijava

We describe three children with transaminase elevations and hepatic insufficiency who were given the diagnosis of cryptogenic hepatitis after the more common viral and metabolic diseases of the liver had been excluded. However, further laboratory investigations showed hyperammonemia, low blood urea

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