Early-onset hepatic fibrosis in lysinuric protein intolerance

J Pediatr Gastroenterol Nutr. 2011 Dec;53(6):695-8. doi: 10.1097/MPG.0b013e318227b02d.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / complications
  • Amino Acid Metabolism, Inborn Errors / pathology*
  • Amino Acid Transport System y+L
  • Child, Preschool
  • Citrulline / administration & dosage
  • Fusion Regulatory Protein 1, Light Chains / genetics
  • Fusion Regulatory Protein 1, Light Chains / metabolism
  • Humans
  • Liver / drug effects
  • Liver / pathology
  • Liver Cirrhosis / complications
  • Liver Cirrhosis / diagnosis*
  • Liver Cirrhosis / drug therapy*
  • Liver Cirrhosis / pathology
  • Lysine / administration & dosage
  • Lysine / blood*
  • Male
  • Mutation
  • Treatment Outcome

Substances

  • Amino Acid Transport System y+L
  • Fusion Regulatory Protein 1, Light Chains
  • SLC7A7 protein, human
  • Citrulline
  • Lysine