Abstract
Background Determination of neonate serum's N-acetyl-β-hexosaminidase (HEX) activity and correlation results with Apgar scale and factors routinely determined in newborn serum. Aims Providing reference values of neonates serum HEX activities, and indicate their diagnostic significance. Study design The study was performed using random serum samples of 111 infants (53 ♂/58 ♀), aged 1–30 days. The activity of HEX was determined colorimetrically and expressed in nKat/L. Results Serum HEX activity of 111 newborns was 360.5 ± 114.0 nKat/L and significantly positively correlated with gestation week at the day of delivery, birth weight, weight on day of blood collection, sex, and serum CRP. Conclusions Reference values presented for neonatal serum activities of HEX may be used in neonatal diagnostics, for example, to detect inflammation and other diseases or for early assessment of the risk of Tay-Sachs and Sandhoff diseases.
Highlights
Our paper is devoted to glycoconjugate catabolism [1]
We found statistically significant decrease of the serum HEX activity of the neonates born at 26–29 weeks (p = 0 034∗) and 35–39 weeks (p = 0 0096∗∗) of pregnancy, in comparison to neonates delivered at ≥40 weeks (Figure 2(a)), with the lightest body weight (
The standard procedure for the final detection of Tay-Sachs and Sandhoff diseases involves a measurement of the HEX activity in tissue cells, leucocytes, and serum [20,21,22]
Summary
Our paper is devoted to glycoconjugate catabolism [1]. Glycoconjugates comprise glycoproteins and proteoglycans with oligosaccharide and glycosaminoglycan chains, respectively, attached to polypeptides as well as glycolipids with oligosaccharide chains attached to lipids. Deficiencies of N-acetyl-β-hexosaminidase A and B isoenzyme activities in neonatal body are the reason for storing gangliosides in their lysosomes that cause Sandhoff and Tay-Sachs diseases [11]. HEX high activity in serum reflects high intensity of tissue glycoconjugate degradation caused by the inflammatory conditions and other etiologies [12]. Determination of neonate serum’s N-acetyl-β-hexosaminidase (HEX) activity and correlation results with Apgar scale and factors routinely determined in newborn serum. Providing reference values of neonates serum HEX activities, and indicate their diagnostic significance. Reference values presented for neonatal serum activities of HEX may be used in neonatal diagnostics, for example, to detect inflammation and other diseases or for early assessment of the risk of Tay-Sachs and Sandhoff diseases
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