Possible clinical and histologic manifestations of adult-onset type II citrullinenia in early infancy

Authors
Tomomasa, T Kobayashi, K Kaneko, H Shimura, H Fukusato, T Tabata, M Inoue, Y Ohwada, S Kasahara, M Morishita, Y Kimura, M Saheki, T Morikawa, A
Citation
T. Tomomasa et al., Possible clinical and histologic manifestations of adult-onset type II citrullinenia in early infancy, J PEDIAT, 138(5), 2001, pp. 741-743
Citations number
8
Categorie Soggetti
Pediatrics,"Medical Research General Topics
Journal title
JOURNAL OF PEDIATRICS
ISSN journal
00223476 → ACNP
Volume
138
Issue
5
Year of publication
2001
Pages
741 - 743
Database
ISI
SICI code
0022-3476(200105)138:5<741:PCAHMO>2.0.ZU;2-7
Abstract
We describe 2 patients with adult-onset type II citrullinemia who developed transient hypoproteinemia and jaundice in early infancy. Liver histology s howed a marked fatty change and fibrosis. After the patients had lived with out symptoms to the ages of 5 and 16 years, respectively, the diagnosis was made by genetic analysis.