Dissertation committee:
Ιωάννης Ντότσικας, Αν. Καθηγητής Φαρμακευτικής ΕΚΠΑ
Ιωάννης Λουκάς, Αν. Καθηγητής Φαρμακευτικής ΕΚΠΑ
Ευάγγελος Καραλής, Επικ. Καθηγητής Φαρμακευτικής ΕΚΠΑ
Ειρήνη Παντερή, Καθηγήτρια Φαρμακευτικής ΕΚΠΑ
Ευάγγελος Γκίκας, Καθηγητής Χημείας ΕΚΠΑ
Χριστίνα Κανακά-Gantenbein, Καθηγήτρια Ιατρικής ΕΚΠΑ
Σουλτάνα Σιαχανίδου, Καθηγήτρια Ιατρικής ΕΚΠΑ
Summary:
Newborn screening (NBS) is a useful public health tool for the early diagnosis and treatment of most inborn errors of metabolism (ΙΕΜ), including aminoacidopathies and fatty acid β-oxidation (FAO) diseases. Essential (ΕΑΑ), non-essential (ΝΕΑΑ), conditionally essential amino acid (CEAA) blood levels, along with free carnitine (C0), short chain (SCA), medium chain (MCA) and long chain acylcarnitine (LCA) blood concentrations play a critical role shortly after birth. Nowadays, research is focused on amino acid (ΑΑ), free, total and acylcarnitine blood concentrations of premature and/or low birth weight (LBW) infants, as compared to healthy full-term infants. We aimed to quantitate most of these ΑΑs and acylcarnitines in the blood of full-term breastfed infants, perinatally and correlate the obtained values with their birth weight (BW). Blood samples as Dried Blood Spots (DBS) were collected on the 3rd day of life and analyzed via liquid chromatography-tandem mass spectrometry (LC-MS/MS) protocol.
Blood concentrations of the ΑΑs, Phenylalanine, Leucine, Glutamine, Ornithine, Alanine, Tyrosine and Glycine in full-term breastfed newborns, were found to be related to their BW, perinatally. On the contrary, no relationship between BW and blood concentrations of the ΑΑs Valine, Methionine, Citrulline and Arginine was found. C0 was determined to be statistically significantly higher in LBW infants. Lower acetylcarnitine (C2) and hydroxybutyrylcarnitine (C4OH) blood concentrations were detected in the same group of both sexes, whereas butyrylcarnitine (C4) concentrations were found to be lower in males only. Furthermore, high concentrations of C2 and C4OH were shown in large for gestational age (LGA) infants (BW 3.500-4.000 g) in both sexes. MCA and LCA blood concentrations were determined significantly lower in LBW infants in both sexes. Infants with BW > 3.500 g, were characterized by lower levels of C10, C10:1, C14, C14:1 acylcarnitines and higher levels of C16 and C18:1 acylcarnitines, as compared to the other groups. Concentration patterns found in full-term breast-fed newborns in relation to their BW could be very helpful for neonatologists, especially for LBW newborns, whereas analyte patterns found in newborns with BW>3.500 g seemed to be similar to those reported in macrosomic infants.
These results show that LBW infants compared to LGA newborns born at term differ in their metabolic profiles, showing that being either LBW or born LGA gives its mark early in life. These differences might be the footprints of metabolic disturbances in future adulthood. Thus attention must be given to nutritional support of future mothers during pregnancy and lactation. Furthermore, there is a need for further understanding the dynamics of neonatal metabolic status and the role of human milk during this critical period of life. Finally, due to the great number of the samples (12.000 newborns), the data could be applied as neonatal screening reference values for full-term breastfed newborns in relation to their BW.
Keywords:
expanded newborn screening, aminoacids, acylcarnitines, birth weight, full-term
