Abstract
Plasma LCFA were measured by gas-liquid chromatography in 2 groups of children aged 4 to 16 years with AD: group A: 13 boys diagnosed as adrenoleucodystrophy (ALD)on the basis of associated neurological symptoms and brain demyelination on the CT scan. Group B: 12children, 9 boys and 3 girls without neurological symptoms and no evidence ALD. In group A, 10 boys had C24, C25, C26 levels and C24/C22 and C26/C22 ratios clearly in the ALD range. 2 were normal, as confirmed by measurements in skin fibroblast cultures. In group B, 12children had normal levels, but one boy had LCFA in the ALD range.
In conclusion LCFA measurement in children with AD lead to recognize ALD at an early stage in certain boys with apparently isolated AD, and demonstrated that the association AD-neurological disorders is not always synonym of ALD.
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Chaussain, J., Donnadieu, M., Moser, A. et al. Measurement of plasma very long chain fattyacids (LCFA) in children with Addison's disease (AD). Pediatr Res 18, 1225 (1984). https://doi.org/10.1203/00006450-198411000-00145
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DOI: https://doi.org/10.1203/00006450-198411000-00145