Phenotype and Genotype Heterogeneity in Mediterranean Citrullinemia
Copyright policy )Phenotype and Genotype Heterogeneity in Mediterranean Citrullinemia
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)/?.
Citrullinemia, DNA, Complementary, Genotype, Mediterranean Region, DNA Mutational Analysis, Infant, Newborn, DNA, Argininosuccinate Synthase, Genetic Heterogeneity, Phenotype, Mutation, Humans, Child
Citrullinemia, DNA, Complementary, Genotype, Mediterranean Region, DNA Mutational Analysis, Infant, Newborn, DNA, Argininosuccinate Synthase, Genetic Heterogeneity, Phenotype, Mutation, Humans, Child
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