Under recognition of late onset ornithine transcarbamylase deficiency
Open Access
- 1 May 2000
- journal article
- case report
- Published by BMJ in Archives of Disease in Childhood
- Vol. 82 (5) , 390-391
- https://doi.org/10.1136/adc.82.5.390
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.Keywords
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