Medical information you need to know as an independent adult with an OTC deficiency
Overview of the Condition:
OTC deficiency is one of a number of urea cycle disorders that happens when there is a problem with the body’s natural way of removing toxic chemicals like ammonia from the bloodstream. OTC deficiency is a genetic condition that is inherited from a baby’s mother.
Click here for a printable PDF version of this guide.
Medical Problems for Babies and Children:
- Babies must get diagnosed and treated right after birth because their ammonia levels will begin to rise right away which can lead to brain damage and death
- If babies survive the newborn period undiagnosed, children with milder forms of this disorder have a variety of hard-to-identify symptoms like hyperactivity, refusal to eat meat or other high-protein foods, and uncontrollable crying
- Often children get misdiagnosed for having Reye’s syndrome
Medical Problems for Teens and Young Adults:
- Sometimes kids are not diagnosed until the teen or adult years – they may experience symptoms such as severe migraines, instances of high levels of ammonia in the blood, or diagnosis of a family member will lead to doctors diagnosing the condition in them
- If treatment stops or does not occur, ammonia levels rise and young adults are at risk for stroke, extreme weakness, liver and kidney problems and severe confusion. These symptoms can then lead to more serious ones like brain damage, coma, and death
- In milder cases of OTC deficiency, side-effects include irritability, migraines, sleep problems and unexplained tiredness
How to Avoid Medical Problems and Complications:
- Eat a very specific diet with limited protein if prescribed by a doctor
- Take supplements to maintain chemical and amino acid levels in the body as prescribed by a doctor
- Take the medications prescribed by your doctor
- The only cure for OTC deficiency is a liver transplant
Pregnancy and Other Medical Events
- Men and women with less severe forms of OTC deficiency are able to have children
- Mothers are at risk for developing hyperammonia (or too high levels of ammonia) during childbirth and should be monitored closely by doctors
What Next?
Now you can fill out the Medical Health Summary, and store it on a USB jump drive, or print and save it. This will help you keep important medical information in one place.
Click here for a printable PDF version of this guide.
Resources:
Genetics Home Reference: http://ghr.nlm.nih.gov/
National Urea Cycle Disorders Foundation: http://www.nucdf.org/index.htm
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