Citrullinemia type I, classical variant. Identification of ASS-p~G390R (c.1168G>A) mutation in families of a limited geographic area of Argentina: a possible population cluster.
OBJECTIVE
Citrullinemia type I (CTLN1) is an urea cycle defect caused by mutations in the argininosuccinate synthetase gene. We report the first identification in Argentina of patients with CTLN1 in a limited geographic area.


METHODS
Molecular analysis in patient/relatives included PCR, sequencing and restriction enzyme assay.


RESULTS
The studied families showed the same mutation: ASS~p.G390R, associated with the early-onset/severe phenotype.


CONCLUSIONS
We postulate a possible population cluster. A program to know the carrier frequency in that population is in progress.
Laróvere
Laura E
LE
Centro de Estudio de las Metabolopatías Congénitas, Clínica Pediátrica, Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Hospital de Niños de Córdoba, Ferroviarios 1250, 5014, Córdoba, Argentina. lauralarovere@hotmail.com
Angaroni
Celia J
CJ
Antonozzi
Sandra L
SL
Bezard
Miriam B
MB
Shimohama
Mariko
M
de Kremer
Raquel Dodelson
RD
D019943:Amino Acid Substitution / Q000235:genetics*; D001118:Argentina; D001124:Argininosuccinate Synthase / Q000235:genetics*; D020159:Citrullinemia / Q000201:enzymology* / Q000235:genetics*; D005190:Family; D005260:Female; D005828:Genetics, Population; D005838:Genotype; D005843:Geography; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree
D001124:Argininosuccinate Synthase