Late-onset hyperammonemia was observed in a male patient with partial quantitative deficiency of ornithine carbamoyltransferase (OCT). His liver contained 10% of the normal level of OCT, but with normal kinetics. This reduced enzyme activity alone, however, could not explain the hyperammonemia. Ther
Osmotic Demyelination Syndrome as a Consequence of Treating Hyperammonemia in a Patient with Ornithine Transcarbamylase Deficiency
β Scribed by Cardenas, J. F.; Bodensteiner, J. B.
- Book ID
- 121467389
- Publisher
- SAGE Publications
- Year
- 2009
- Tongue
- English
- Weight
- 202 KB
- Volume
- 24
- Category
- Article
- ISSN
- 0883-0738
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
A girl with ornithine transcarbamylase (OTC) deficiency was investigated for molecular and cytogenetic abnormalities that might explain this phenotype. Analysis with polymorphic DNA markers indicated that the patient did not inherit paternal alleles of the OTC locus, but that she did inherit the pro
Ornithine transcarbamylase (OTC) deficiency, a X-linked disorder, is the most frequent inborn error of the urea cycle. Point mutations and small deletions/insertions in the OTC gene are responsible for the majority of the cases and have a "private"character with little recurrence. We report on eleve
## Background: The use of 5-fluorouracil (5-fu) and levamisole in patients with stage iii adenocarcinoma of the colon has now become standard. there have been several reports of a multifocal cerebral demyelination syndrome following 5-fu and levamisole administration. ## Methods: We describe a pa