Early cirrhosis in a patient with type I citrullinaemia (CTLN1).
A 17-month-old girl with type I classical citrullinaemia (CTLN1) presenting with early cirrhosis and unusual ultrastructural features of the liver is reported. The patient is homozygous for a splicing mutation in intron 15 of the argininosuccinate synthase gene.
Güçer
S
S
Department of Pediatric Pathology, Hacettepe University Faculty of Medicine, Ankara, Turkey. sgucer@hacettepe.edu.tr
Aşan
E
E
Atilla
P
P
Tokatli
A
A
Cağlar
M
M
D001124:Argininosuccinate Synthase / Q000172:deficiency / Q000235:genetics; D020159:Citrullinemia / Q000150:complications* / Q000235:genetics / Q000473:pathology; D005260:Female; D006720:Homozygote; D006801:Humans; D007223:Infant; D007438:Introns / Q000235:genetics; D008103:Liver Cirrhosis / Q000175:diagnosis* / Q000209:etiology*; D009154:Mutation; D012326:RNA Splicing / Q000235:genetics
D001124:Argininosuccinate Synthase