ornithine carbamoyltransferase deficiency disease/slabost navzea

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Female heterozygotes for the hypomorphic R40H mutation can have ornithine transcarbamylase deficiency and present in early adolescence: a case report and review of the literature.

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BACKGROUND Ornithine transcarbamylase deficiency is the most common hereditary urea cycle defect. It is inherited in an X-linked manner and classically presents in neonates with encephalopathy and hyperammonemia in males. Females and males with hypomorphic mutations present later, sometimes in

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

Posterior fossa syndrome in a patient with an ornithine transcarbamylase deficiency.

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The posterior fossa syndrome (PFS) is a well-known clinical entity and mainly occurs in children. Ornithine transcarbamylase deficiency (OTC) is the most common urea cycle disorder, which occurs in an estimated 1 per 50.000 live births in Japan. Symptoms are mostly due to hyperammonemia and include

[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

[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

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

Case 252: Acute Hyperammonemic Encephalopathy Resulting from Late-Onset Ornithine Transcarbamylase Deficiency.

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History A 19-year-old woman with no pertinent medical history was brought to the emergency department after being found unconscious on her bathroom floor by her roommate. In the preceding weeks, she had reported intractable nausea and vomiting, for which she had been taking ondansetron. No other

Psychiatric Symptoms as the First or Solitary Manifestation of Somatic Illnesses: Hyperammonaemia Type II

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Aim: We describe the difficulties encountered in making a diagnosis where a somatic condition manifests itself alongside psychiatric symptoms associated with possible psychiatric comorbidities. Methods:

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