Establishment of Age Specific Reference Interval for Aminoacids and Acylcarnitine in Dried Blood Spot by Tandem Mass Spectrometry

This study was proposed to establish age specific reference internal for aminoacids and acylcartinitine in dried blood spot by tandem mass spectrometry. A total of 480 apparently healthy children were enrolled for the study and sub classified into four groups as follows: Group A: 0 –1 month, Group B: 1 month–1 year, Group C: 1–5 year and Group D: 5–12 years each having 120 participants. Sample size were calculated as per CLSI approved guidelines. Tables1 and2 presents the age-specific percentile distribution of aminoacids and acylcarnitines established from healthy subjects as per rank-based method recommended by the IFCC and CLSI. Tables3,4 and5 presents the cut-off values of primary and secondary marker/ratios for screening of aminoacidopathies, fatty acid oxidation disorders and organic acid disorders respectively. As a general principle, the interpretation of extended newborn screening results should be based on age specific cut-off established by the laboratory for primary analyte concentration and secondary analyte concentration/ ratios. This study was useful in establishing age specific cut-off values for various amino acids and acylcarnitines in South Indian population.Table 1Age-specific percentile distribution of aminoacidsStudy groupsGroup A ( μmol/L)Group B ( μmol/L)Group C ( μmol/L)Group D ( μmol/L)Percentile12.55097.59912.55097.59912.55097.59912.55097.599Glycine44.0050.00361.85745.00840.0076.0081.00351.41705.00820.0088.0092.00383.00620.00785.001...
Source: Indian Journal of Clinical Biochemistry - Category: Biochemistry Source Type: research