ornithine carbamoyltransferase deficiency disease/kusma

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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,

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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Symptoms and clinical presentations of OTC deficiency vary widely according to the remaining activity of the enzyme. Three factors determine the residual enzyme activity. First, as the OTC gene is carried on the X chromosome, a complete inactivation of this enzyme in a newborn boy

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

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

Recurrent somnolence in a 17-month-old infant: late-onset ornithine transcarbamylase (OTC) deficiency due to the novel hemizygous mutation c.535C > T (p.Leu179Phe).

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Herein, we describe a case of a now 28-month-old boy who presented at the age of 17 months with four episodes of recurrent vomiting and somnolence during a period of four months with increasing severity. A comprehensive clinical and metabolic evaluation revealed normal blood pH and blood glucose,

Ornithine Transcarbamylase Deficiency Presenting as Acute Liver Failure in Girls: A Paediatric Case Series.

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Ornithine transcarbamylase deficiency (OTCD) is the most common of the urea cycle disorders and follows an X-linked inheritance pattern. The classical form in male infants causes vomiting and lethargy in the neonatal period; if untreated the severe hyperammonaemia can cause acute neurotoxic

Acrodermatitis enteropathica-like dermatosis associated with ornithine transcarbamylase deficiency.

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The urea cycle is the major metabolic pathway for excretion of waste nitrogen. Ornithine transcarbamylase deficiency is the most frequent urea cycle disorder. It is a hereditary-X-linked disease with over 150 mutations described. Ornithine transcarbamylase deficiency causes vomiting, lethargy,

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