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A striking elevation of plasma chitotriosidase activity, greater than 150 times the normal median value, was found in two galactosialidosis patients. Furthermore, increased plasma chitotriosidase activity, 10-53 times the normal median value, was also observed in fucosidosis, glycogen storage disease type IV, Alagille syndrome and hydrops fetalis due to congenital herpes virus infection.

Aim: Plasmalogens are phospholipids characterized by the presence of a vinyl ether bond at the sn‐1 position of the glycerol backbone. They are particularly abundant in the nervous system, the heart and striated muscle. Peroxisomes are essential for their biosynthesis and red blood cell (RBC) plasmalogen levels are a reliable test in the investigation of patients suspect for a peroxisomal defect. The functions attributed to them include protection against oxidative stress, myelin formation and signal transduction. The aim of the present study was the investigation of RBC plasmalogen levels in neonates. Methods: A total of 25 healthy full‐term, appropriate for gestational age neonates were studied. RBC plasmalogens were estimated using gas chromatography within the first five days of life. Fifteen healthy children 1–8‐year olds served as controls. Results: Statistically significant lower plasmalogen levels were found in neonates compared to older children. Conclusion: Our results indicate that a different range of normal values for plasmalogen levels should be used in the investigation of peroxisomal diseases in neonates. The lower levels of plasmalogens in neonates found in our study could render them more vulnerable to oxidative stress.

Perinatal asphyxia is associated with a reduction in LC-PUFA levels, most likely as a result of increased oxidative stress. Premature infants soon after birth have higher LC-PUFA levels than term neonates, probably reflecting the overall metabolic activity and/or intrauterine transport of LC-PUFA.

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