Carnitine Deficiency in Preterm Infants: Symptoms and Management

Carnitine deficiency

Hello, doctor.
My daughter was born prematurely at 28 weeks and is currently 2 months old.
She has a deficiency in carnitine and is still in the incubator, struggling with feeding.
She experiences frequent abdominal distension and is currently fasting, only taking 1 ml every 3 hours.
There are often residual milk and mucus in the gastric tube when it is aspirated.
I am unsure if this situation is related to her carnitine deficiency.
Is it normal for the aspirated mucus to occur? How should we supplement carnitine for a premature infant with this deficiency, and what would be the appropriate dosage? If we supplement too much carnitine, what effects could that have? What should we be aware of in daily life? How can we confirm if it is primary carnitine deficiency?

Nydia, 20~29 year old female. Ask Date: 2006/12/26

Dr. Jian Yingxiu reply Rare Disease

Carnitine deficiency is typically assessed through blood tests measuring acylcarnitine levels, as well as the concentrations of free and total carnitine.
If there is suspicion of deficiency, further evaluation may involve skin fibroblast testing for specific enzyme activity or genetic mutation analysis.
In cases of primary carnitine deficiency, lifelong supplementation with carnitine is required, often at higher doses.
For secondary carnitine deficiency, lower doses may be sufficient.
Excessive carnitine intake can lead to diarrhea.
Symptoms such as bloating or residual milk should not be attributed to carnitine deficiency, but it is advisable to consult your healthcare provider for a proper assessment of your condition.

Reply Date: 2006/12/26

More Info

Carnitine deficiency is a metabolic disorder that can significantly impact preterm infants, particularly those born before 28 weeks of gestation. In your case, your daughter, who was born at 28 weeks and is currently experiencing carnitine deficiency, is facing several challenges, including feeding difficulties and gastrointestinal issues such as abdominal distension and residual milk in the feeding tube.

Symptoms of Carnitine Deficiency
Carnitine plays a crucial role in the metabolism of fatty acids, facilitating their transport into the mitochondria for energy production. In infants, especially preterm ones, a deficiency can lead to a range of symptoms, including:
1. Poor Feeding: Infants may have difficulty feeding, which can lead to inadequate weight gain.

2. Abdominal Distension: This can occur due to gastrointestinal immaturity, which is common in preterm infants.

3. Hypoglycemia: Low blood sugar levels can occur due to impaired fatty acid metabolism.

4. Muscle Weakness: This may manifest as decreased activity or lethargy.

5. Failure to Thrive: A general term for inadequate growth and development.

Management and Treatment
The management of carnitine deficiency in preterm infants typically involves supplementation. The dosage of carnitine can vary based on the severity of the deficiency and the infant's overall health status. Generally, the recommended dose for infants with carnitine deficiency is around 50-100 mg/kg/day, divided into multiple doses. However, it is crucial to consult with a pediatric metabolic specialist to determine the appropriate dosage for your daughter, as individual needs can vary.

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Potential Risks of Over-Supplementation
While carnitine is generally considered safe, excessive supplementation can lead to side effects, including:
- Diarrhea: High doses of carnitine can cause gastrointestinal upset.

- Nausea and Vomiting: Some infants may experience these symptoms if the dosage is too high.

- Fishy Odor: An unusual body odor may occur due to carnitine metabolism.

Addressing Feeding Difficulties
The feeding challenges you described, such as the presence of residual milk and mucus in the feeding tube, may not be directly related to carnitine deficiency. These issues can arise from the immaturity of the gastrointestinal system in preterm infants. It is essential to work closely with your healthcare team to monitor her feeding tolerance and adjust her feeding regimen as needed.
In some cases, a gradual increase in feeding volume may be necessary, along with careful monitoring for signs of gastrointestinal distress, such as vomiting, abdominal distension, or changes in stool consistency.

Identifying Primary vs. Secondary Carnitine Deficiency
To determine whether your daughter has primary (genetic) or secondary (due to other health issues) carnitine deficiency, further testing may be required. This could include:
- Blood Tests: Measuring levels of acylcarnitines and free carnitine.

- Genetic Testing: To identify any underlying genetic mutations affecting carnitine metabolism.

- Enzyme Activity Tests: To assess the function of specific enzymes involved in carnitine metabolism.

Long-term Considerations
As your daughter continues to grow, it is essential to monitor her development closely. Regular follow-ups with a pediatrician and possibly a metabolic specialist will help ensure that her nutritional needs are met and that any potential complications are addressed promptly.
In summary, while carnitine deficiency can pose challenges for preterm infants, with appropriate management and monitoring, many infants can thrive. It is vital to maintain open communication with your healthcare team to address any concerns and adjust treatment as necessary.

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