The decision-making levels of urine tetrasaccharide for the diagnosis of Pompe disease in the Turkish population.

Autor:	Canbay E; Ege University, Faculty of Medicine, Department of Medical Biochemistry, Izmir, Turkey., Vural M; Ege University, Faculty of Medicine, Department of Medical Biochemistry, Izmir, Turkey., Kalkan Uçar S; Ege University, Faculty of Medicine, Department of Pediatric Metabolism, Izmir, Turkey., Sezer ED; Ege University, Faculty of Medicine, Department of Medical Biochemistry, Izmir, Turkey., Karasoy H; Ege University, Faculty of Medicine, Department of Neurology, Izmir, Turkey., Yüceyar AN; Ege University, Faculty of Medicine, Department of Neurology, Izmir, Turkey., Çoker M; Ege University, Faculty of Medicine, Department of Pediatric Metabolism, Izmir, Turkey., Sözmen EY; Ege University, Faculty of Medicine, Department of Medical Biochemistry, Izmir, Turkey.
Jazyk:	angličtina
Zdroj:	Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2020 Mar 26; Vol. 33 (3), pp. 391-395.
DOI:	10.1515/jpem-2019-0393
Abstrakt:	Background Recently, urinary excretion of the tetrasaccharide 6-α-D-glucopyranosyl-maltotriose (Glc4) has been proposed as a marker for the diagnosis and monitoring of Pompe disease (PD). We aimed to determine the reference intervals and reliable decision-making levels of urine tetrasaccharide concentrations for the diagnosis of infantile- and late-onset Pompe patients in the Turkish population. Methods In this study, nine patients with PD (five of them with late-onset PD [LOPD]) and 226 healthy individuals (aged 0-64 years) were included. Urine Glc4 concentrations were determined using the ultra-high-performance liquid chromatography (UHPLC) tandem mass spectrometry (MS/MS) method. Results Our data showed that the urine tetrasaccharide levels decreased with age in healthy individuals (p < 0.001, r = -0.256). It was higher especially during the first year of life compared to that in the elder subjects. The tetrasaccharide level of Pompe patients was higher compared to that of healthy controls of the same age: 99 ± 68 mmol/mol creatinine for infantile onset vs. 4.0 ± 3.0 mmol/mol creatinine for healthy controls of the same age group and 12.1 ± 17.4 mmol/mol creatinine for late onset vs. 1.7±1.2 mmol/mol creatinine for healthy controls of the same age group. Conclusions The results of this study showed that the reference intervals of tetrasaccharide in urine changed over time; therefore, it is critically important to define age-based decision levels for the diagnosis of LOPD.
Databáze:	MEDLINE
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