Phenotype and genotype heterogeneity in Mediterranean citrullinemia
Por:
Vilaseca MA, Kobayashi K, Briones P, Lambruschini N, Campistol-Plana J, Tabata A, Alomar A, Rodès M, Lluch M and Saheki T
Publicada:
1 nov 2001
Resumen:
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)/?.
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