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Plasma carnitine levels in children with Down syndrome

M Seven1, M Cengiz, S Tüzgen

  • 1Genetik Araştirma Merkezi, Cerrahpaşa Tip Fakültesi, Istanbul Universitesi, Cerrahpaşa, Istanbul, Turkey. mehseven@istanbul.edu.tr

American Journal of Human Biology : the Official Journal of the Human Biology Council
|December 19, 2001
PubMed

Insights

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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