Early cirrhosis in a patient with type I citrullinaemia (CTLN1)

J Inherit Metab Dis. 2004;27(4):541-2. doi: 10.1023/b:boli.0000037401.63596.de.

Abstract

A 17-month-old girl with type I classical citrullinaemia (CTLN1) presenting with early cirrhosis and unusual ultrastructural features of the liver is reported. The patient is homozygous for a splicing mutation in intron 15 of the argininosuccinate synthase gene.

Publication types

  • Case Reports

MeSH terms

  • Argininosuccinate Synthase / deficiency
  • Argininosuccinate Synthase / genetics
  • Citrullinemia / complications*
  • Citrullinemia / genetics
  • Citrullinemia / pathology
  • Female
  • Homozygote
  • Humans
  • Infant
  • Introns / genetics
  • Liver Cirrhosis / diagnosis*
  • Liver Cirrhosis / etiology*
  • Mutation
  • RNA Splicing / genetics

Substances

  • Argininosuccinate Synthase