Phenotype and genotype heterogeneity in Mediterranean citrullinemia.
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Vilaseca MA, Kobayashi K, Briones P, Lambruschini N, Campistol J, Tabata A, Alomar A, Rodes M, Lluch M, Saheki T
Phenotype and genotype heterogeneity in Mediterranean citrullinemia.
Mol Genet Metab. 2001 Nov;74(3):396-8.
- PubMed ID
- 11708871 [ View in PubMed]
- Abstract
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)/?.