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