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Página 1 a partir de 83 resultados
Vomiting, ataxia, and altered mental status in an adolescent: late-onset ornithine transcarbamylase deficiency.
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A case of a 13-year-old boy with protracted vomiting, ataxia, and altered mental status, ultimately diagnosed with late-onset ornithine transcarbamylase (OTC) deficiency, is presented. OTC deficiency is the most common urea cycle defect and typically is diagnosed in male infants with irritability,
Liver failure with coagulopathy, hyperammonemia and cyclic vomiting in a toddler revealed to have combined heterozygosity for genes involved with ornithine transcarbamylase deficiency and Wilson disease.
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A girl with a 2 month history of cyclic episodes of vomiting, diarrhea, and lethargy lasting 2-3 days each presented with acute hepatopathy (ALT 3,500 IU/L) with coagulopathy (PT 55 s) and hyperammonemia (207 μmol/L) at age 1½ years. Biochemical and molecular analyzes revealed ornithine
Hyperammonemia in a Woman with Late-onset Ornithine Transcarbamylase Deficiency.
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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
[Ornithine transcarbamylase deficiency in adult].
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BACKGROUND
Ornithine transcarbamylase (OTC) deficiency is a X-linked inherited disorder characterized by hyperammoniemic encephalopathy in male neonates. However, there is an increased evidence of late-onset disease, including in adults.
METHODS
A 23-year-old woman presented with vomiting,
Intestinal changes caused by DL-alpha-difluoromethylornithine (DFMO), an inhibitor of ornithine decarboxylase.
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Subacute (2 week) oral or intravenous administration of DL-alpha-difluoromethylornithine (DFMO), an irreversible inhibitor of ornithine decarboxylase (ODC), caused diarrhea and frequent emesis as early as 4 to 5 days in dogs (dose greater than or equal to 200 mg/kg/day). Diarrhea also occurred in
Histopathological findings in a male with late-onset ornithine transcarbamylase deficiency.
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Late onset of symptoms in a 12 1/2-year-old male with ornithine transcarbamylase (OTC) deficiency were associated with unusual histological features in the liver. The patient presented with an acute onset of hyperammonemia and altered mental status after a 2-day prodrome of vomiting and lethargy.
Ornithine Transcarbamylase Deficiency: If at First You Do Not Diagnose, Try and Try Again.
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Ornithine transcarbamylase (OTC) deficiency is well known for its diagnosis in the neonatal period. Presentation often occurs after protein feeding and manifests as poor oral intake, vomiting, lethargy progressing to seizure, respiratory difficulty, and eventually coma. Presentation at adulthood is
[Clinical characteristics and analysis of mass spectrometric data in patients with ornithine transcarbamylase deficiency].
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OBJECTIVE
To explore the clinical manifestations and biochemical characteristics of patients with ornithine transcarbamylase deficiency (OTCD) so as to increase the clinician awareness for this disease.
METHODS
The clinical manifestations, blood ammonia levels, citrulline levels, urinary orotic acid
Malnutrition with hypoaminoacidemia in a 22-year-old pregnant patient masking a likely ornithine transcarbamylase deficiency.
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The effect of alpha-difluoromethyl-ornithine on tumor growth, acute phase reactants, beta-2-microglobulin and hydroxyproline in kidney and bladder carcinomas.
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Multiple oral doses of alpha-difluoromethyl-ornithine (alpha-DFMO), 18-24 g/day for up to 2 months, were administered to 2 patients with invasive and metastatic carcinoma of the bladder and to 3 patients with metastatic renal cancer in an open study. The moderate antigrowth effect of alpha-DFMO in
A case of ornithine transcarbamylase deficiency with Rett syndrome manifestations.
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We have studied an 8-year-old girl with ornithine transcarbamylase deficiency with many of the manifestations of Rett syndrome. She is profoundly mentally retarded and microcephalic after normal development in early childhood. Seizures, hyperventilation, ataxia, amimia, and "hand wringing"
[Clinical and gene mutation analyses of three patients with ornithine carbamoyltransferase deficiency].
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OBJECTIVE
To analyze the clinical and genetic characteristics of three children with ornithine carbamoyltransferase deficiency(OTCD), and to provide a practical method for gene diagnosis and genetic counseling of the disease.
METHODS
All exons of the ornithine carbamoyltransferase (OTC) gene were
A novel mutation in ornithine transcarbamylase gene causing mild intermittent hyperammonemia.
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We report a 3-year-old Saudi boy with recurrent episodes of vomiting, poor feeding, and altered mental status accompanied by an intermittent mild hyperammonemia, and a large elevation of urinary orotic acid. Sanger sequencing of the ornithine transcarbamylase (OTC) gene revealed a novel hemizygous
An unusual clinical and biochemical presentation of ornithine transcarbamylase deficiency in a male patient.
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We report a male patient with a history of recurrent idiopathic vomiting, normal plasma ammonia and glutamine concentrations in acute phase, who died at 3 years of age. Ornithine transcarbamylase deficiency was diagnosed after detecting elevated urinary orotate concentrations in a sample collected
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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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
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