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

We describe 2 patients with adult-onset type II citrullinemia who developed transient hypoproteinemia and jaundice in early infancy. Liver histology showed a marked fatty change and fibrosis. After the patients had lived without symptoms to the ages of 5 and 16 years, respectively, the diagnosis was...

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Bibliographic Details
Published in:The Journal of pediatrics 2001-05, Vol.138 (5), p.741-743
Main Authors: Tomomasa, Takeshi, Kobayashi, Keiko, Kaneko, Hiroaki, Shimura, Hanae, Fukusato, Toshio, Tabata, Masahiko, Inoue, Yoshinari, Ohwada, Susumu, Kasahara, Mureo, Morishita, Yasuo, Kimura, Masahiko, Saheki, Takeyori, Morikawa, Akihiro
Format: Article
Language:English
Subjects:
Adolescent
Aminoacid disorders
Biological and medical sciences
Biopsy
Child, Preschool
Citrullinemia - diagnosis
Citrullinemia - genetics
Citrullinemia - pathology
Errors of metabolism
Fatty Liver - pathology
Female
Genotype
Humans
Liver - pathology
Male
Medical sciences
Metabolic diseases
Point Mutation
Polymerase Chain Reaction
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Summary:We describe 2 patients with adult-onset type II citrullinemia who developed transient hypoproteinemia and jaundice in early infancy. Liver histology showed a marked fatty change and fibrosis. After the patients had lived without symptoms to the ages of 5 and 16 years, respectively, the diagnosis was made by genetic analysis. (J Pediatr 2001;138:741-3)
ISSN:0022-3476
1097-6833
DOI:10.1067/mpd.2001.113361