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

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

Author information

1
Nutrition and Metabolopathies Unit, Hospital La Fe, Valencia, Spain. vitoria_isi@gva.es

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

PMID:
23835251
DOI:
10.1016/j.ymgme.2013.06.011
[Indexed for MEDLINE]

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