ornithine carbamoyltransferase deficiency disease/ödem

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Intracranial Pressure Monitoring Demonstrates that Cerebral Edema Is Not Correlated to Hyperammonemia in a Child with Ornithine Transcarbamylase Deficiency.

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BACKGROUND Ornithine transcarbamylase deficiency (OTCD) is an inborn error of urea cycle resulting in increased plasma levels of ammonia and glutamine and cerebral edema. However, the underlying mechanism of brain cytotoxicity remains controversial. Our objective is to present an unusual acute

Fatal cerebral edema from late-onset ornithine transcarbamylase deficiency in a juvenile male patient receiving valproic acid.

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OBJECTIVE The aims of this report are to 1) present a rare case of fatal cerebral edema associated with late-onset ornithine transcarbamylase (OTC) deficiency in a juvenile male patient receiving valproic acid and 2) review the neuropathologic changes associated with the hyperammonemia. METHODS Case

Ornithine transcarbamylase deficiency that developed at the age of 19 years with acute brain edema.

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A 19-year-old man had nausea, diarrhea, and general malaise the day before requesting emergency transport to his former primary physician. The patient became restless and had tonic seizures after admission. The patient was transferred to our hospital as there had been no improvement in his level of

Recurrent brain edema in ornithine-transcarbamylase deficiency.

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Late-onset ornithine transcarbamylase deficiency in two families with different mutations in the same codon.

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We report on late-onset ornithine transcarbamylase (OTC) deficiency in two families with mutations in the same codon, but different base substitutions. Onset of symptoms showed great variation, and five hemizygotes finally died. Clinical diagnosis was late and difficult. In family A, 1 patient also

Liver Failure as the Presentation of Ornithine Transcarbamylase Deficiency in a 13-Month-Old Female.

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Ornithine transcarbamylase deficiency (OTCD) is an X-linked urea cycle disorder with variable expressivity in heterozygous females. While liver function testing is often abnormal in patients with OTCD, liver failure is uncommon on presentation. A 13-month-old female with no significant past medical

Late-Onset Ornithine Transcarbamylase Deficiency and Variable Phenotypes in Vietnamese Females With OTC Mutations

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Background: Ornithine transcarbamylase deficiency (OTCD) is an X- linked recessive disorder and the most common error of the urea cycle, caused by the mutations in the OTC gene. Due to X-inactivation, 15-20% of female carriers present symptoms of OTCD at late onset. Early diagnosis of

Late-onset ornithine transcarbamylase deficiency in male patients: prognostic factors and characteristics of plasma amino acid profile.

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BACKGROUND The occurrence of male patients with ornithine transcarbamylase (OTC) deficiency during adolescence or in adulthood has now been recognized. The aim of this study was to determine the prognostic factors that affect the prognosis of life, to explore a basis for therapeutic

Curative Treatment of Ornithine Transcarbamylase Deficiency With a Liver Transplant: A Case Report.

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One of the X chromosome-linked disorders is ornithine transcarbamylase deficiency in the urea cycle. This disorder results in increased ammonia and glutamine in the blood. Accumulation of these metabolites without treatment causes brain edema, which often progresses to coma and death. This study

Acute fatal presentation of ornithine transcarbamylase deficiency in a previously healthy male.

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Ornithine transcarbamylase (OTC) deficiency is an X-linked urea cycle defect. While hemizygous males typically present with hyperammonemic coma in infancy, reports of rare late-onset presentations exist, with poor outcomes in males up to 58 years old. Relatives with mutations identical to affected

Hyperammoniemic coma in an adolescent girl: an unusual case of ornithine transcarbamylase deficiency.

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Ornithine transcarbamylase deficiency (OTCD) is caused by an alteration of urea synthesis, linked with partial modification of the X-chromosome, whose clinical manifestations are: lethargy, nausea, vomiting and cerebral edema. While in newborn males OTCD presents with hyperammoniemia leading to

Multiorgan donation from a donor with unrecognized ornithine transcarbamylase deficiency.

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Ornithine transcarbamylase (OTC) deficiency, the most common inherited urea cycle disorder, shows a spectrum of severity ranging from severe neonatal hyperammonemic coma to no symptoms among adults. We report on the multiorgan procurement from a donor who died of cerebral edema due to unrecognized

[Abrupt onset and rapid deterioration in the course of congenital ornithine transcarbamylase deficiency: a case report].

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We report a 17-year-old female case of ornithine transcarbamylase (OTC) deficiency who died of brain edema due to hyperammonemic attack. The patient had a brother with OTC deficiency who had died of hyperammonemia at 17 years of age. She firstly had a symptom of headache, nausea, vomiting and

Late-onset ornithine transcarbamylase deficiency: treatment and outcome of hyperammonemic crisis.

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Hyperammonemic crises in ornithine transcarbamylase deficiency (OTC) can be associated with devastating cerebral edema resulting in severe long-term neurologic impairment and death. We present an 8-year-old boy who had late-onset OTC deficiency in which early and aggressive management of

[Ornithine transcarbamylase deficiency in adolescence and adulthood: first manifestation with life-threatening decompensation].

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BACKGROUND Ornithine transcarbamylase (OTC) deficiency is the most frequent innate disorder of the urea cycle and is X-chromosome linked. The disease normally manifests itself shortly after birth and is fatal when untreated. Due to the different expression and X-chromosomal inheritance the

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