Under recognition of late onset ornithine transcarbamylase deficiency.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 10799432.
- Also identified by PMC identifier 1718304.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
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.
Medical subject headings
- Alanine Transaminase
- Ornithine Carbamoyltransferase Deficiency Disease