Citrin deficiency in a Romanian child living in Spain highlights the worldwide distribution of this defect and illustrates the value of nutritional therapy

Mol Genet Metab. 2013 Sep-Oct;110(1-2):181-3. doi: 10.1016/j.ymgme.2013.06.011. Epub 2013 Jun 21.

Abstract

We report citrin deficiency in a neonatal non-East-Asian patient, the ninth Caucasian reported with this disease. The association of intrahepatic cholestasis, galactosuria, very high alpha-fetoprotein and increased plasma and urine citrulline, tyrosine, methionine and threonine levels suggested citrin deficiency. Identification of a protein-truncating mutation (c.1078C>T; p.Arg360*) in the SLC25A13 gene confirmed the diagnosis. An immediate response to a high-protein, lactose-free, low-carbohydrate formula was observed. Our report illustrates the need for awareness on citrin deficiency in Western countries.

Keywords: Aspartate/glutamate antiporter; CTLN2; Citrullinemia type 2; NICCD; Neonatal cholestasis; SLC25A13.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Asian People / genetics
  • Calcium-Binding Proteins / blood
  • Calcium-Binding Proteins / deficiency*
  • Calcium-Binding Proteins / genetics*
  • Calcium-Binding Proteins / urine
  • Citrulline / blood
  • Citrulline / urine
  • Diet Therapy*
  • Humans
  • Methionine / blood
  • Methionine / urine
  • Mitochondrial Membrane Transport Proteins / genetics*
  • Mutation
  • Organic Anion Transporters / blood
  • Organic Anion Transporters / deficiency*
  • Organic Anion Transporters / genetics*
  • Organic Anion Transporters / urine
  • Romania
  • Spain
  • Threonine / blood
  • Threonine / urine
  • Tyrosine / blood
  • Tyrosine / urine
  • White People / genetics

Substances

  • Calcium-Binding Proteins
  • Mitochondrial Membrane Transport Proteins
  • Organic Anion Transporters
  • SLC25A13 protein, human
  • citrin
  • Citrulline
  • Threonine
  • Tyrosine
  • Methionine