OTC Deficiency in Infants: Symptoms and Concerns - Pediatrics

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OTC deficiency, or Ornithine Transcarbamylase deficiency, is a rare genetic disorder that affects the urea cycle, leading to an accumulation of ammonia in the blood. This condition is particularly concerning in infants, as elevated ammonia levels can lead to neurological symptoms, including seizures. In your case, the symptoms you describe—twitching or jerking movements during sleep—could potentially be linked to elevated ammonia levels, especially given that your child's ammonia level was reported at 89 µmol/L, which is above the normal range for infants.

The medications you mentioned (Unitussin syrup, Demin syrup, Kaopectin suspension, and Mepogranul) are generally not known to cause seizures or twitching in infants. However, it is essential to consider that any medication can have side effects, and the interaction of these medications with your child's underlying condition could potentially contribute to neurological symptoms. It is also important to note that the common cold itself can lead to increased stress on the body, which may exacerbate underlying metabolic conditions like OTC deficiency.

Regarding the DPT vaccine, which includes the pertussis vaccine (the "P" in DPT stands for Pertussis), it is unlikely that the vaccine is responsible for the twitching. Vaccines can have side effects, but serious neurological reactions are extremely rare. The timing of the symptoms appearing several days after vaccination suggests that it is more likely related to the underlying metabolic condition rather than the vaccine itself.

As for the liver function test showing a value of 62, this could indicate some degree of liver stress or dysfunction, which is not uncommon in cases of OTC deficiency due to the accumulation of ammonia and other metabolites. However, the interpretation of liver function tests should always be done in the context of clinical symptoms and other laboratory findings.

To further investigate your child's condition, it is crucial to work closely with a pediatrician or a pediatric metabolic specialist. They may recommend additional tests, such as:
1. Repeat ammonia levels: To monitor for any changes and assess the effectiveness of any interventions.

2. Liver function tests: To evaluate the liver's ability to process substances and eliminate ammonia.

3. Neurological evaluation: If seizures or abnormal movements persist, a referral to a pediatric neurologist may be warranted.

4. Genetic testing: If not already done, to confirm the diagnosis of OTC deficiency and assess for any related metabolic disorders.

In summary, while the twitching movements during sleep are concerning, they are likely related to the underlying OTC deficiency and elevated ammonia levels rather than the medications or vaccines. Close monitoring and follow-up with healthcare professionals specializing in metabolic disorders are essential for managing your child's condition effectively. It is also important to maintain open communication with your child's healthcare team to address any new symptoms or concerns as they arise.