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Related Experiment Videos

[Partial ornithine carbamyl transferase deficiency].

C Largillière1

  • 1Service de génétique et maladies héréditaires du métabolisme de l'enfant, Hôpital Claude-Huriez, CHRU, Lille, France.

Pediatrie
|January 1, 1988
PubMed
Summary

A rare genetic disorder, partial ornithine carbamyl transferase deficiency, caused acute liver failure in an infant. Treatment with amino acid keto-analogs addressed complications like hyperammoniemic comas and malnutrition-related skin issues.

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Area of Science:

  • Biochemistry
  • Genetics
  • Pediatric Medicine

Background:

  • Ornithine carbamyl transferase deficiency is an inherited urea cycle disorder.
  • Acute hepatic failure can be a presenting symptom in infants with urea cycle disorders.
  • Differential diagnosis is crucial for timely and appropriate management.