Under recognition of late onset ornithine transcarbamylase deficiency.

Abstract excerpt

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.

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Age of Onset
• Share to Alanine Transaminase
• Share to Diagnosis, Differential