| Ornithine Transcarbamylase Deficiency |
| Geno
|
Mag
|
Summary
|
| (A;A)
|
0
|
common in clinvar
|
| (A;G)
|
3
|
Carrier of an ornithine carbamoyltransferase mutation
|
| (G;G)
|
8.2
|
Ornithine Transcarbamylase Deficiency
|
This is a genotype with recommended actions if clinically confirmed. In brief:
- Ornithine transcarbamylase (OTC) deficiency is associated with hyperammonemia, leading to death or to severe neurological handicap in many survivors.
- OTC deficiency can occur as a severe neonatal-onset disease in males and as a late-onset (partial) disease in males and females.
- The interventions are primarily non-invasive surveillance, a strict metabolic diet with any necessary oral supplementation, and oral nitrogen scavenger therapy (e.g. sodium benzoate), if required.
- In an asymptomatic female known to be heterozygous, precautions should be taken in the peripartum and postpartum period to prevent catabolism; in addition, measurement of ammonia levels and administration of dextrose should be considered as heterozygous females have become symptomatic for the first time in the peripartum period.
The full ClinGen Actionability report about Ornithine transcarbamylase (OTC) deficiency can be found
here.
Genetic counseling may be available to you through your health-care network. In the US, genetic counselors may be found via this webpage of the National Society of Genetic Counselors.
