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

Tomomasa, T; Kobayashi, K; Kaneko, H; Shimura, H; Fukusato, T; Tabata, M; Inoue, Y; Ohwada, S et al. · J Pediatr · 2001

case_report · Level V

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Abstract

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.

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