Article Text
PDFArticle
Under recognition of late onset ornithine transcarbamylase deficiency
Abstract
Late onset ornithine transcarbamylase deficiency (McKusick 311250) is reported in four Finnish patients, two boys and two heterozygous girls. The subtle onset and course of ornithine transcarbamylase deficiency emphasises the need for plasma ammonia and amino acid measurements in clinical situations suggesting a disorder of this nature.
- urea cycle defect
- ornithine transcarbamylase deficiency
- late onset disease
- under recognition
- genetics
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