Ornithine transcarbamylase deficiency
- Ornithine carbamoyltransferase deficiency
- OTC deficiency
- OCT deficiency
Your QuestionMy son and daughter-in-law recently lost a baby boy to ornithine transcarbamylase (OTC) deficiency. My daughter-in-law has been identified as a carrier. Is it possible for carrier females to have a healthy baby?
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Questions on this page
- What is ornithine transcarbamylase (OTC) deficiency?
- What are the signs and symptoms of ornithine transcarbamylase (OTC) deficiency?
- What causes ornithine transcarbamylase (OTC) deficiency?
- How is ornithine transcarbamylase (OTC) deficiency inherited?
- If a woman is a carrier of ornithine transcarbamylase (OTC) deficiency, what are the chances that she will pass the condition onto her children?
- How can I find a genetics professional in my area?
In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), mutations in both copies of the gene will cause the disorder. Some females with only one altered copy of the OTC gene also show signs and symptoms of OTC deficiency.
Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.
The following online resources can help you find a genetics professional in your community:
- GeneTests has a searchable directory of US and international genetics and prenatal diagnosis clinics.
- The National Society of Genetic Counselors provides a searchable directory of US and international genetic counseling services.
- The American College of Medical Genetics has a searchable database of US genetics clinics.
- The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments.
- The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.
- Roth KS. Ornithine Transcarbamylase Deficiency. Medscape Reference. August 28, 2015; http://emedicine.medscape.com/article/950672-overview. Accessed 11/28/2015.
- Ornithine transcarbamylase deficiency. Genetics Home Reference. June 2006; http://www.ghr.nlm.nih.gov/condition/ornithine-transcarbamylase-deficiency. Accessed 11/28/2015.
- Ornithine transcarbamylase deficiency. Genetics Home Reference (GHR). 2006; http://www.ghr.nlm.nih.gov/condition/ornithine-transcarbamylase-deficiency. Accessed 3/4/2011.
- Summar ML. Urea Cycle Disorders Overview. GeneReviews. August 29, 2013; http://www.ncbi.nlm.nih.gov/books/NBK1217/. Accessed 11/28/2015.