title: Phenotype and genotype heterogeneity in Mediterranean citrullinemia.
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)/?.
authors.affiliation: Biochemical Service, Hospital Sant Joan de Dèu, Passeig Sant Joan de Déu 2, 08950-Esplugues, Barcelona, Spain. vileseca@hsjdbcn.org
authors.forename: M A
authors.initials: MA
authors.lastname: Vilaseca
authors.forename: K
authors.initials: K
authors.lastname: Kobayashi
authors.forename: P
authors.initials: P
authors.lastname: Briones
authors.forename: N
authors.initials: N
authors.lastname: Lambruschini
authors.forename: J
authors.initials: J
authors.lastname: Campistol
authors.forename: A
authors.initials: A
authors.lastname: Tabata
authors.forename: A
authors.initials: A
authors.lastname: Alomar
authors.forename: M
authors.initials: M
authors.lastname: Rodès
authors.forename: M
authors.initials: M
authors.lastname: Lluch
authors.forename: T
authors.initials: T
authors.lastname: Saheki
mesh_terms: D001124:Argininosuccinate Synthase / Q000172:deficiency / Q000235:genetics*; D002648:Child; D020159:Citrullinemia / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics; D018740:Genetic Heterogeneity; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D019083:Mediterranean Region; D009154:Mutation; D010641:Phenotype
chemical_list: D018076:DNA, Complementary; D004247:DNA; D001124:Argininosuccinate Synthase