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1: Mol Genet Metab. 2001 Nov;74(3):396-8.Click here to read Links

Phenotype and genotype heterogeneity in Mediterranean citrullinemia.

Vilaseca MA, Kobayashi K, Briones P, Lambruschini N, Campistol J, Tabata A, Alomar A, Rodès M, Lluch M, Saheki T.

Biochemical Service, Hospital Sant Joan de Dèu, Passeig Sant Joan de Déu 2, 08950-Esplugues, Barcelona, Spain. vileseca@hsjdbcn.org

We summarize the diagnosis, outcome, and molecular studies of five Mediterranean patients with citrullinemia: four neonatal classical forms and one subacute form, who also suffers from Down syndrome and presented with severe hepatic encephalopathy at age 7. Mutational analysis revealed three alleles with a common mutation and five new mutations: two Moroccan siblings are homozygous for G390R, the subacute form is compound heterozygous for G390R/G117D (new mutation), and the two other neonatal forms are compound heterozygous for four new mutations: V69A/E270Q and T119I(R108L)/?. Copyright 2001 Academic Press.

PMID: 11708871 [PubMed - indexed for MEDLINE]