Rare Disease: "Secondary Carnitine Deficiency due to Congenital Hereditary Metabolic Disorders"
The child is currently one year and three months old and has shown developmental delays despite a smooth pregnancy and delivery.
For example, at 4.5 months, she did not open her face when covered and showed no interest in reaching for toys.
Early intervention therapy began at seven months, which led to some improvements.
She only stabilized in sitting at one year and one month, currently shows little response to her name, does not speak any words, and has no teeth.
She has esotropia and does not crawl.
She can stand for a few minutes while holding onto something.
Since childhood, when experiencing emotional distress, excitement, or anger, she shakes her head continuously from side to side.
In early November, a blood metabolic test revealed that she has one of the rare diseases, "inherited metabolic disorder with secondary carnitine deficiency," which requires lifelong medication with Carnitene 1gm Tab (for energy enhancement), containing Levocarnitine chewable tablets.
Is there any evidence that long-term use of this medication will improve her developmental delays? Additionally, does this medication have any potential side effects? Is the IQ of children with this condition typically normal? I sincerely request Dr.
Lin's insights.
Thank you very much!
kk, 30~39 year old female. Ask Date: 2005/11/24
Dr. Lin Xuanpei reply Rare Disease
Please first confirm whether the deficiency of carnitine is primary or secondary.
If it is secondary, what is the underlying cause? Are there clear results, or is it still under investigation? It is essential to thoroughly explore the primary causes, including comprehensive genetic metabolic testing and neurological assessments, although it is possible that no definitive conclusion may be reached even after extensive investigation.
Levocarnitine is a very safe medication, and as long as it is prescribed and guided by a specialist, there should be no concerns regarding its side effects.
Secondary carnitine deficiency is not a single disease, and the intellectual and prognostic outcomes for affected children should be assessed on a case-by-case basis.
It is advisable to seek evaluation and recommendations from the child's attending physician.
Sincerely, Lin Hsuan-Pei, Department of Pediatric Genetics, Mackay Memorial Hospital.
Reply Date: 2005/11/24
More Info
Secondary carnitine deficiency is a condition that can arise from various underlying metabolic disorders, and it is characterized by a reduced level of carnitine in the body. Carnitine plays a crucial role in the metabolism of fatty acids, facilitating their transport into the mitochondria for energy production. In children, especially those with developmental delays or other health issues, understanding the implications of secondary carnitine deficiency is essential for management and treatment.
In the case of your daughter, who is currently one year and three months old and has shown developmental delays, the diagnosis of secondary carnitine deficiency following metabolic screening is significant. The developmental milestones you described, such as not responding to her name, not speaking, and having difficulty with motor skills, are concerning and warrant a comprehensive evaluation. It is important to note that while carnitine deficiency can contribute to metabolic dysfunction, the relationship between carnitine supplementation and developmental outcomes is complex.
Levocarnitine, the active form of carnitine found in the medication you mentioned (Carnitene), is generally considered safe when prescribed by a healthcare professional. Long-term use of levocarnitine is often necessary for individuals with carnitine deficiency, and it can help improve energy metabolism, potentially leading to better overall health and development. However, the extent to which it may directly improve developmental delays is not fully understood and can vary from case to case. Some studies suggest that carnitine supplementation may have positive effects on muscle function and energy levels, which could indirectly support developmental progress.
Regarding side effects, levocarnitine is typically well-tolerated, but some individuals may experience gastrointestinal issues such as nausea, vomiting, or diarrhea. It is crucial to monitor your daughter for any adverse reactions and communicate with her healthcare provider about any concerns.
As for cognitive outcomes, children with secondary carnitine deficiency can have a wide range of intellectual abilities. The impact on intelligence is not solely determined by the deficiency itself but also by the underlying metabolic disorder and any associated complications. Regular follow-up with a pediatrician and possibly a developmental specialist is essential to assess her cognitive and developmental progress over time.
In summary, while levocarnitine is a critical component of managing secondary carnitine deficiency, its effects on developmental delays may vary. Continuous monitoring and a multidisciplinary approach involving pediatricians, nutritionists, and developmental specialists will provide the best support for your daughter's growth and development. It is also advisable to explore any underlying conditions that may be contributing to her developmental challenges, as addressing these can lead to more targeted interventions and improved outcomes.
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