title: Reference intervals of α-glycosidase, β-glycosidase, and α-galactosidase in dried blood spot in a Turkish newborn population.
abstract: Inherited lysosomal storage diseases (LSDs) are rare, and diagnosis is often delayed for 7-10 years. Since the therapies have become available for a limited number of LSDs, (Fabry, Gaucher, Pompe, and MPS-1), early diagnosis of treatable LSDs can be lifesaving or ameliorating and allows timely treatment before irreversible damage occurs. Recently, the use of dried blood spot test (DBS) for newborn screening of LSDs has been proposed for newborn screening tests. They are noninvasive, sensitive, and specific assays with the further advantage of a fast turnaround time compared to measurement in leukocyte and/or fibroblast culture. We aimed to determine the reference intervals for lysosomal enzyme activities of newborn babies in our population and to investigate the effect of gestational week on enzyme activity. One hundred thirty healthy newborn babies (70 girls, 60 boys) were included into the study. α-Glycosidase, β-glycosidase, and α-galactosidase activities in DBS samples of newborns were determined fluorometrically. Reference intervals were calculated using Dixon's rule and percentiles of 2.5-97.5. Cutoff limits (5 %) for α-glycosidase, β-glycosidase, and α-galactosidase activities were 0.57, 0.92, and 2.18, respectively. α-Galactosidase activity was higher in girls compared to boys (p < 0.05). Interestingly, α-glycosidase and β-glycosidase activities of newborns who were delivered before 38 weeks were significantly lower than those who were delivered at 39-40 weeks. Conclusion It is of utmost importance to define the reference intervals for lysosomal enzyme activities as well as cutoff limits for newborn babies with regard to gestational age and sex. More studies to clarify the reason for the change in enzyme activity by gestational week will be required.
authors: Department of Medical Biochemistry, Ege University Faculty of Medicine, Bornova, Izmir, Turkey.
authors: Ozan
authors: O
authors: Aldemir
authors: Pelin
authors: P
authors: Ergun
authors: Sezgin
authors: S
authors: Güneş
authors: Ozge Altun
authors: OA
authors: Köroğlu
authors: Mehmet
authors: M
authors: Yalaz
authors: Nilgün
authors: N
authors: Kültürsay
authors: Mahmut
authors: M
authors: Coker
authors: Eser Y
authors: EY
authors: Sözmen
mesh_terms: D015415:Biomarkers / Q000097:blood; D059788:Dried Blood Spot Testing; D005260:Female; D005865:Gestational Age; D006026:Glycoside Hydrolases / Q000097:blood*; D006801:Humans; D007231:Infant, Newborn; D016464:Lysosomal Storage Diseases / Q000097:blood / Q000175:diagnosis* / Q000201:enzymology; D008297:Male; D015997:Neonatal Screening / Q000379:methods*; D012016:Reference Values; D012737:Sex Factors; D014421:Turkey; D000519:alpha-Galactosidase / Q000097:blood*
chemical_list: D015415:Biomarkers; D006026:Glycoside Hydrolases; D000519:alpha-Galactosidase
references: Mol Genet Metab. 2012 Mar;105(3):530
references: 22244710
references: Mol Genet Metab. 2006 Aug;88(4):307-14
references: 16600651
references: J Inherit Metab Dis. 2007 Aug;30(4):614
references: 17694354
references: Clin Chim Acta. 2003 Aug;334(1-2):5-23
references: 12867273
references: Mol Genet Metab. 2011 May;103(1):12-7
references: 21320792
references: J Inherit Metab Dis. 2010 Feb;33(1):43-50
references: 20033296
references: Pediatrics. 2009 Dec;124(6):e1116-25
references: 19948615
references: Clin Chim Acta. 2002 Mar;317(1-2):191-7
references: 11814475
references: Lancet. 2012 Jan 28;379(9813):335-41
references: 22133539
references: Clin Chim Acta. 2001 Jun;308(1-2):195-6
references: 11432396
references: Diagn Pathol. 2010 Sep 29;5:65
references: 20920262
references: Pediatrics. 2007 Nov;120(5):e1327-34
references: 17974725
references: Pediatrics. 2009 Apr;123(4):1191-207
references: 19336380
references: Clin Chim Acta. 2009 Apr;402(1-2):38-41
references: 19111682
references: Genet Med. 2006 May;8(5):302-6
references: 16702880
references: Clin Chem. 2010 Jul;56(7):1071-9
references: 20489136
references: Am J Hum Genet. 2006 Jul;79(1):31-40
references: 16773563
references: Clin Chim Acta. 2006 Oct;372(1-2):98-102
references: 16712827
references: Am J Med Genet C Semin Med Genet. 2011 Feb 15;157C(1):63-71
references: 21312327
references: Mol Genet Metab. 2011 Sep-Oct;104(1-2):144-8
references: 21831684