Article
Heterogeneity of patients with late onset ornithine transcarbamylase deficiency.
Clinical and investigative medicine. Medecine clinique et experimentale - 1 Aug 1991
Tuchman M, Holzknecht R A
Abstract excerpt
Fourteen patients, 10 males and 4 females, with "late onset" ornithine transcarbamylase (OTC) deficiency were diagnosed by enzyme assays performed on their liver tissues. Age of first clinical presentation ranged widely from 10 weeks to 23 y (mean = 6.1 y). Peak plasma ammonia levels varied widely from a low of 105 mumol/L to as high as 800 mumol/L. All patients had elevated plasma levels of glutamine whereas...
Topics
- Adolescent
- Adult
- Age Factors
- Ammonia
- Child
- Child, Preschool
- Female
- Genetic Variation
- Glutamine
- Heterozygote
- Humans
- Infant