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Vitamin B6 in plasma and cerebrospinal fluid of children
Monique Albersen1, Marjolein Bosma1, Judith J M Jans1
1Department of Medical Genetics, University Medical Center (UMC) Utrecht, Utrecht, The Netherlands.
Insights
This study measured vitamin B6 vitamer levels in children with intellectual disability, finding differences between plasma and cerebrospinal fluid (CSF). These findings aid in diagnosing vitamin B6 metabolism disorders.
Area of Science:
- Biochemistry
- Neuroscience
- Pediatrics
Background:
- Vitamin B6 is crucial for brain development and function.
- Genetic disorders causing vitamin B6 deficiency are known.
- Limited data exists on vitamin B6 vitamer levels in children.
Purpose of the Study:
- To determine B6 vitamer concentrations in plasma and CSF of children with intellectual disability.
- To investigate the influence of sex, age, epilepsy, and anti-epileptic drug treatment.
- To establish reference values for B6 vitamers in pediatric populations.
Main Methods:
- Ultra-performance liquid chromatography-tandem mass spectrometry used for B6 vitamer analysis.
- Simultaneous plasma and cerebrospinal fluid (CSF) sampling from 70 children with intellectual disability.
- Investigated correlations between B6 vitamers and clinical factors.
Main Results:
- Plasma and CSF showed distinct B6 vitamer compositions (PLP > pyridoxic acid > PL in plasma; PL > PLP > pyridoxic acid > pyridoxamine in CSF).
- Strong correlations observed for B6 vitamers within and between plasma and CSF.
- Anti-epileptic drug treatment correlated with reduced PL and PLP levels in CSF.
Conclusions:
- Provides normative B6 vitamer concentrations in pediatric plasma and CSF.
- Useful for investigating vitamin B6 metabolism disorders in children.
- Aids in monitoring the biochemical impact of vitamin B6 treatments.
Background:
Over the past years, the essential role of vitamin B6 in brain development and functioning has been recognized and genetic metabolic disorders resulting in functional vitamin B6 deficiency have been identified. However, data on B6 vitamers in children are scarce.
Materials And Methods:
B6 vitamer concentrations in simultaneously sampled plasma and cerebrospinal fluid (CSF) of 70 children with intellectual disability were determined by ultra performance liquid chromatography-tandem mass spectrometry. For ethical reasons, CSF samples could not be obtained from healthy children. The influence of sex, age, epilepsy and treatment with anti-epileptic drugs, were investigated.
Results:
The B6 vitamer composition of plasma (pyridoxal phosphate (PLP) > pyridoxic acid > pyridoxal (PL)) differed from that of CSF (PL > PLP > pyridoxic acid > pyridoxamine). Strong correlations were found for B6 vitamers in and between plasma and CSF. Treatment with anti-epileptic drugs resulted in decreased concentrations of PL and PLP in CSF.
Conclusion:
We provide concentrations of all B6 vitamers in plasma and CSF of children with intellectual disability (±epilepsy), which can be used in the investigation of known and novel disorders associated with vitamin B6 metabolism as well as in monitoring of the biochemical effects of treatment with vitamin B6.
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