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Related Experiment Videos

[Fulminant coma: think hyperammonemia and urea cycle disorders].

C Augris1, P Jouvet, F Benabdelmalek

  • 1Service d'anesthésie, centre hospitalier de Nevers, avenue Colbert, 58000 Nevers, France.

Annales Francaises D'Anesthesie Et De Reanimation
|January 22, 2003
PubMed
Summary

A rare genetic disorder, ornithine transcarbamylase deficiency, caused a teen

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Area of Science:

  • Biochemistry
  • Genetics
  • Pediatric Neurology

Background:

  • Ornithine transcarbamylase deficiency is a rare genetic urea cycle disorder.
  • It leads to hyperammonemia, which can cause severe neurological damage.

Observation:

  • A 14-year-old boy presented with acute coma and no focal neurological signs.
  • A family history revealed an uncle's death from a similar coma in 1992, associated with extremely high ammonia levels.

Findings:

  • Post-mortem liver biopsy confirmed hereditary ornithine transcarbamylase deficiency.
  • The patient's uncle had a blood ammonia level of 344 µmol/L, leading to cerebral death despite treatment.

Implications:

  • Measurement of blood ammonia is crucial for diagnosing coma of unknown origin, regardless of age.

Related Experiment Videos

  • Early diagnosis and intervention in urea cycle disorders can prevent severe neurological sequelae.