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

Autores de IIS La Fe

• Isidro Vitoria Miñana

  Autor

• Jaime Dalmau Serra

  Autor

• 

  Carmen Ribes Koninckx

  Autor

Participantes ajenos a IIS La Fe

• Rausell D
• García AM
• López-Montiel J
• Rubio V

Grupos

• Enfermedad celíaca e Inmunopatología digestiva

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