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[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
Summary
A rare genetic disorder, ornithine transcarbamylase deficiency, caused a teen
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.
- Early diagnosis and intervention in urea cycle disorders can prevent severe neurological sequelae.