OTC deficiency

Ornithine transcarbamylase (OTC) deficiency is a disorder of the urea cycle in which protein is not completely broken down, causing an elevation of ammonia which is toxic to the brain. OTC is a genetic condition that is passed down from either your father or mother who are descendants of Jane Wright Earl. This condition has caused misdiagnoses that has led to early deaths within our family line.

With new advancements in DNA sequencing technology, the Jane Wright Earl OTC deficiency genetic marker, c.-106C>A, was recently identified in March 2018. This marker now provides, through a simple blood test, a confirmation as to whether or not you are a carrier of this mutated gene. The Jane Wright Earl OTC website is dedicated to providing information for descendants who may be affected by OTC. OTC is no longer a silent killer, once identified, it is treatable.

 

 
 

University of Utah Health Metabolic Clinic Resources

OTC deficiency Facts

Click below to learn how OTC happens, what is OTC deficiency, and what are the symptoms and treatments.

OTC ER and Treatment Letters

Click below to access PDF letters from Dr. Nicola Longo, MD, PhD, that can be taken to your health care provider.

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How to be tested

To learn how to be tested for ornithine transcarbamylase (OTC) deficiency contact:

Melissa Smith
Clinical Coordinator
Metabolic Clinic University of Utah
801.585.2457
melissa.j.smith@hsc.utah.edu 

 

Finding your direct link

Jane Wright Earl had 13 children, 9 have descendants. OTC deficiency is a genetic condition that is passed down from either mom or dad. Click below to see if you are related.

 

This OTC website was made possible by the generous funding from the following foundation.

 

If you would like to donate to Baine’s Legacy to help continue their cause for OTC deficiency awareness as well as helping with projects like this website, you may donate directly by clicking below.