Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle

Mol Genet Metab. 2004 Apr;81 Suppl 1:S20-6. doi: 10.1016/j.ymgme.2004.01.006.

Abstract

Citrin is a mitochondrial aspartate glutamate carrier primarily expressed in the liver, heart, and kidney. We found that adult-onset type II citrullinemia is caused by mutations in the SLC25A13 gene that encodes for citrin. In this report, we describe the frequency of SLC25A13 mutations, the roles of citrin as a member of the urea cycle and as a member of the malate-aspartate shuttle, the relationship between its functions and symptoms of citrin deficiency, and therapeutic issues.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adult
  • Calcium-Binding Proteins / deficiency*
  • Citrullinemia / epidemiology
  • Citrullinemia / genetics
  • Citrullinemia / metabolism*
  • Citrullinemia / therapy
  • Female
  • Gene Frequency
  • Hepatitis / epidemiology
  • Hepatitis / genetics
  • Hepatitis / metabolism*
  • Humans
  • Infant, Newborn
  • Japan / epidemiology
  • Liver / metabolism
  • Male
  • Membrane Transport Proteins / genetics
  • Mitochondrial Membrane Transport Proteins
  • Mitochondrial Proteins / genetics
  • Models, Biological
  • Mutation
  • Organic Anion Transporters / deficiency*
  • Urea / metabolism*

Substances

  • Calcium-Binding Proteins
  • Membrane Transport Proteins
  • Mitochondrial Membrane Transport Proteins
  • Mitochondrial Proteins
  • Organic Anion Transporters
  • SLC25A13 protein, human
  • citrin
  • Urea