Ornithine transcarbamylase deficiency and pancreatitis

J Pediatr. 2001 Jan;138(1):123-4. doi: 10.1067/mpd.2001.109792.

Abstract

We describe a male patient with a Y202H ornithine transcarbamylase deficiency gene mutation who had pancreatitis while taking a low-protein diet, citrulline, and sodium phenylbutyrate.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Amylases / blood
  • Chronic Disease
  • Citrulline / therapeutic use
  • Combined Modality Therapy
  • Diet, Protein-Restricted / adverse effects
  • Enteral Nutrition / adverse effects
  • Gastrostomy / adverse effects
  • Humans
  • Lipase / blood
  • Male
  • Mutation / genetics
  • Ornithine Carbamoyltransferase Deficiency Disease / complications*
  • Ornithine Carbamoyltransferase Deficiency Disease / diagnosis
  • Ornithine Carbamoyltransferase Deficiency Disease / genetics*
  • Ornithine Carbamoyltransferase Deficiency Disease / therapy
  • Pancreatitis / blood
  • Pancreatitis / enzymology
  • Pancreatitis / etiology*
  • Phenotype
  • Risk Factors

Substances

  • Citrulline
  • Lipase
  • Amylases