Abstract
Background: Down syndrome (DS); a common chromosomal abnormality in humans can affect multiple organ systems. DS individuals usually use a wide range of medications. There is a gap in knowledge about the extent of contribution of CYP3A4/5 in altered clinical response to medications in DS children. Objectives: Phenotyping of CYP3A4/5 in DS children using. the ratio of 4β-hydroxycholesterol / Cholesterol (4β-OHC/C) as an endogenous biomarker for CYP3A4/5 activity. Method: The study was an observational case control study, conducted in the DS clinic, King Abdul-Aziz University Hospital. Blood samples were taken for thyroid and liver function test by automated immunoassay procedure and analysis of cholesterol and 4β-hydroxycholesterol by gas chromatography. Results: 16 DS and 29 non-DS children were enrolled (1-12 Y). Children with DS showed a lower median 4β-OHC/C molar ratio of 0.19×10-4 compared to 0.45×10-4 in the control group and with interquartile range (IQR) 0.17, 0.36 respectively (p < 0.001 Mann Whitney U test). DS children also showed an abnormality in liver enzymes and hypercholesteremia. Conclusion: Children with DS had about two-fold lower CYP3A4/5 activity compared to children without DS. More studies to confirm these observations are required, however, drugs should be used cautiously in DS children.
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