Citrullinemia type 1: genetic diagnosis and prenatal diagnosis in subsequent pregnancy.
Citrullinemia type 1 was diagnosed by tandem mass spectrometry in a full term male neonate who presented with an acute catastrophic collapse on the 3rd day of life. Both parents were identified to be carriers for the exon 15 p Gly390Arg mutation in the argininosuccinate synthetase gene located at chromosome 9q34.1. Chorionic villus sampling and prenatal genetic testing in the subsequent pregnancy revealed an affected fetus resulting in termination of pregnancy.
Womens Center, Coimbatore; Mediscan systems, Chennai, India; and Division of Metabolism, University Childrens Hospital, Steinweiesstrasse, Switzerland. Correspondence to: Dr G Karthikeyan, GK Baby Clinic, 472, Muniappan Koil Street, Coimbatore 641 003, India. drgkarthikeyan@yahoo.co.uk.
G
G
Karthikeyan
Sujatha
S
Jagadeesh
Suresh
S
Seshadri
J
J
Häberle
D000025:Abortion, Eugenic; D001124:Argininosuccinate Synthase / Q000235:genetics; D020159:Citrullinemia / Q000175:diagnosis* / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D011247:Pregnancy; D011296:Prenatal Diagnosis
D001124:Argininosuccinate Synthase