Article
Late-onset ornithine transcarbamylase deficiency in male patients.
The Journal of pediatrics - 1 Dec 1990
Finkelstein J E, Hauser E R, Leonard C O, Brusilow S W
Abstract excerpt
We report on 21 male patients who presented after 28 days of age with ornithine transcarbamylase (OTC) deficiency, which we define as late-onset OTC deficiency. These patients appeared normal at birth, but irritability, vomiting, and lethargy, which were often episodic, later developed. The age a...
Topics
- Adolescent
- Adult
- Child
- Child, Preschool
- Clinical Protocols
- Humans
- Infant
- Male
- Metabolism, Inborn Errors
- Ornithine Carbamoyltransferase Deficiency Disease
- Pedigree
- Phenotype
- Sex Factors
- Time Factors