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Plasma carnitine levels in children with Down syndrome
1Genetik Araştirma Merkezi, Cerrahpaşa Tip Fakültesi, Istanbul Universitesi, Cerrahpaşa, Istanbul, Turkey. mehseven@istanbul.edu.tr
Summary
Carnitine levels are lower in young children with Down syndrome (DS) compared to typically developing children. However, carnitine levels become similar in both groups as they age from 5 to 13 years.
Area of Science:
- Biochemistry
- Pediatrics
- Genetics
Background:
- Carnitine plays a vital role in lipid metabolism, nerve function, and cellular protection.
- Down syndrome (DS) is associated with developmental delays in growth and motor control.
Purpose of the Study:
- To investigate carnitine level variations in children with and without Down syndrome.
- To examine the relationship between carnitine levels and age in these groups.
Main Methods:
- A comparative study involving 30 typically developing children and 40 children with Down syndrome (Turkish ancestry).
- Carnitine levels were quantified using Deufel's enzymatic method.
- Participants ranged in age from 6 months to 13 years.
Main Results:
- Significantly lower carnitine levels were observed in DS patients compared to controls aged 6 months to 5 years.
- Carnitine levels were comparable between DS patients and controls aged 5 to 13 years.
- Age-related carnitine level increases differed between the DS and control groups.
Conclusions:
- Carnitine levels exhibit a distinct age-related progression pattern in children with Down syndrome.
- These findings highlight potential metabolic differences in carnitine processing in DS individuals.
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