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)/?.
Vilaseca
M A
MA
Biochemical Service, Hospital Sant Joan de Dèu, Passeig Sant Joan de Déu 2, 08950-Esplugues, Barcelona, Spain. vileseca@hsjdbcn.org
Kobayashi
K
K
Briones
P
P
Lambruschini
N
N
Campistol
J
J
Tabata
A
A
Alomar
A
A
Rodès
M
M
Lluch
M
M
Saheki
T
T
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
D018076:DNA, Complementary; D004247:DNA; D001124:Argininosuccinate Synthase