OTC Deficiency: Causes of Seizures in Infants and When to Seek Help

OTC deficiency (Ornithine Transcar

Hello Doctor, my young son is nearly five months old (born on November 4, 2004) and is a patient with OTC deficiency.
He has experienced seizures both at birth and recently.
I would like to ask whether these phenomena are caused by the following factors or if there are other reasons, and whether this is normal or if he needs medical attention.
If medical attention is required, which hospital and department should we visit?
Here is my child's medical history:
1.
On the fourth day after birth, he presented with a comatose state and seizures, after which he was prescribed antiepileptic medication and was discharged without further medication.
2.
On March 21 of this year (2005), he had a cold and sought medical attention.
After taking medication, he experienced seizures in both hands the next day, causing involuntary movements of his hands and eyes before sleep, which only stopped when he entered deep sleep.
However, his hands occasionally continue to twitch.
Is this phenomenon abnormal? Could it be caused by the cold medication he took? (The medications he took are: 1.
Unitussin syrup 2.
Demin syrup 3.
Kaopectin suspension)
3.
On March 15 of this year (2005), he received the DPT vaccine.
What does the "P" in DPT stand for? Is it Pertussis? Could his seizures be related to this vaccination?
Thank you for your assistance, Doctor! I hope my child grows up healthy.

jas, 30~39 year old female. Ask Date: 2005/03/27

Dr. Jian Yingxiu reply Rare Disease

Patients with OTC deficiency are prone to elevated blood ammonia levels during colds or when receiving vaccinations, which can lead to symptoms such as increased crying, vomiting, and even lethargy.
Your baby's condition may be related to the cold medication, but the possibility of sequelae from the primary condition or other causes cannot be ruled out.
Please seek medical attention promptly.
The "P" in the DPT vaccine stands for Pertussis; it is recommended that you opt for the newer acellular Pertussis vaccine in the future.

Reply Date: 2005/03/27

More Info

Understanding OTC deficiency and its implications, especially in infants, is crucial for parents and caregivers. OTC (Ornithine Transcarbamylase) deficiency is a rare genetic disorder that affects the urea cycle, leading to an accumulation of ammonia in the blood, which can be toxic and result in neurological symptoms, including seizures.

In your case, your infant son, who is nearly five months old and diagnosed with OTC deficiency, has experienced seizures and other concerning symptoms. It is essential to understand the potential causes of these seizures and when to seek medical help.

1. Seizures and OTC Deficiency: Seizures in infants with OTC deficiency can be attributed to hyperammonemia (elevated ammonia levels in the blood). The body’s inability to process ammonia due to the enzyme deficiency can lead to neurological damage and seizures. The fact that your son exhibited seizures shortly after birth and again after a recent illness suggests that his condition may be exacerbated by factors that increase ammonia levels, such as infections or dietary indiscretions.

2. Medications and Their Effects: You mentioned that your son was prescribed several medications after a recent cold. While medications like Unitussin syrup, Demin syrup, and Kaopectin suspension are generally used to treat cold symptoms, it is crucial to consider their ingredients and potential side effects. Some over-the-counter medications can have sedative effects or may not be suitable for infants with metabolic disorders. However, these medications are unlikely to directly cause seizures unless they interact adversely with his underlying condition.

3. Vaccination Concerns: The DPT vaccine (Diphtheria, Pertussis, and Tetanus) is a standard immunization given to infants. The "P" in DPT indeed stands for Pertussis. While vaccines can sometimes cause mild side effects, serious adverse reactions are rare. The timing of your son's seizures in relation to the vaccination does not strongly suggest a causal link, especially since the symptoms appeared several days after the vaccination.

4. When to Seek Help: Given your son's history of seizures and his diagnosis of OTC deficiency, it is crucial to seek immediate medical attention if he experiences any new or worsening symptoms, such as increased frequency or duration of seizures, changes in behavior, or signs of distress. Regular follow-ups with a pediatric neurologist or a metabolic specialist are essential for managing his condition effectively.

5. Recommended Actions: It is advisable to consult with a pediatrician who specializes in metabolic disorders or a pediatric neurologist. They can provide a comprehensive evaluation and may recommend further testing, such as blood ammonia levels, to assess his metabolic status. Additionally, they can guide you on dietary management, which is critical in managing OTC deficiency, as certain proteins can exacerbate ammonia accumulation.

In summary, while the medications and vaccinations your son received are not likely the direct cause of his seizures, his underlying condition necessitates careful monitoring and management. Regular consultations with healthcare professionals familiar with OTC deficiency will be vital in ensuring your son's health and development. Always err on the side of caution and seek medical advice whenever you have concerns about your child's health.

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