Age-related reference values for urinary excretion of sialic acid and deoxysialic acid: application to diagnosis of storage disorders of free sialic acid

1995 ◽  
Vol 41 (4) ◽  
pp. 544-547 ◽  
Author(s):  
J Romppanen ◽  
I Mononen
Keyword(s):  
Sialic Acid ◽  
Urinary Excretion ◽  
Reference Values ◽  
Reference Interval ◽  
Reference Intervals ◽  
Mean Value ◽  
Hplc Method ◽  
Age Related ◽  
Free Sialic Acid ◽  
Storage Disorders

Abstract We have established by HPLC age-related reference intervals for sialic acid urinary excretion in 364 control individuals to assist in evaluating the clinical significance of the free sialic acid concentration in urine. In addition, an HPLC method for quantitative analysis of free deoxysialic acid was developed, and age-related reference intervals for excretion of this compound in urine were established. In patients with storage disorders of free sialic acid (n = 11) the sialic acid excretion was increased 2- to 35-fold, compared with the mean value of the control subjects in the corresponding age group, and exceeded the interval in each case. The excretion of deoxysialic acid was within the reference interval in all of the patients, indicating that its metabolism was not affected in the disorders. The age-related reference values assist in evaluating the excretion of free sialic acid in the diagnosis of storage disorders of free sialic acid, especially in young children.

scholarly journals Year-Long Validation Study and Reference Values for Urinary Amino Acids Using a Reversed-Phase HPLC Method

2001 ◽  
Vol 47 (3) ◽  
pp. 575-583 ◽  
Author(s):  
Rafael Venta
Keyword(s):  
Amino Acids ◽  
Amino Acid ◽  
Reference Values ◽  
Amino Acid Analysis ◽  
Reference Intervals ◽  
Reversed Phase ◽  
Hplc Method ◽  
Rp Hplc ◽  
Age Related

Abstract Background: Reversed-phase HPLC (RP-HPLC) has become an alternative to ion-exchange chromatography for amino acid analysis in biological fluids. However, validation studies for its urine application are limited, and the corresponding reference values have not been reported extensively. We studied the long-term performance of a commercial HPLC method for urine amino acid analysis and established specific age-related reference values for urine amino acid excretion. Methods: Method performance was continuously assessed by recovery and precision studies with urine samples and controls, respectively. Healthy individuals were prospectively analyzed throughout a 5-year period. Excretion of individual amino acids, expressed as mmol/mol of creatinine, was included in six age-related groups for random urine samples (0–1 month, 1–12 months, 1–3 years, 3–8 years, 8–16 years, and >16 years) and in two groups for 24-h urine collections (8–16 years and >16 years). Results: Over a 1-year period, CVs for retention times were <0.5% and 3.3% for within- and between-run imprecision, respectively. For amino acid concentrations, within-run CVs were 2.9–17% and between-run CVs were 7.1–46% for the same period. Amino acid recoveries were 78–122%. Reference intervals for 35 amino acids were calculated and compared with the concentrations observed in patients diagnosed with specific pathologies. A few statistically significant differences were found between the reference intervals derived using random and 24-h urine collections. Conclusions: Long-term reliability of the RP-HPLC method for urine amino acid analysis has been demonstrated. Representative age-related reference intervals for the RP-HPLC method in both random urine and 24-h urine collections have been established, and their feasibility for diagnosis of aminoaciduria has been shown. These intervals could serve as a guide for laboratories changing to HPLC methods.

scholarly journals Reference values of plasma homocysteine in Cuban children and adults

2020 ◽  
Vol 0 (0) ◽  
Author(s):  
Alina Concepción Alvarez ◽  
Ivette Camayd Viera ◽  
Lisy Vento Buigues ◽  
Yanet Fernández Martínez ◽  
Eraida Hernández ◽  
...  
Keyword(s):  
Reference Values ◽  
High Performance ◽  
Age Groups ◽  
Coffee Consumption ◽  
Reference Interval ◽  
Reference Intervals ◽  
Multifactorial Diseases ◽  
Weak Association ◽  
Different Populations ◽  
Cuban Population

AbstractObjectivesHomocysteine (Hcy) is a nonessential amino acid, produced by the demethylation of methionine. High Hcy levels, or hyperhomocysteinemia, have been associated with genetic and multifactorial diseases. Hcy reference values may vary between different populations, as Hcy levels are affected by factors such as sex, age, diet, smoking, and coffee consumption. The estimation reference interval (RI) allows to establish the normal values of this marker in population. At present, these levels are unknown in Cuba. The aim of this work is to estimate the Hcy reference intervals in Cuban children and adults.MethodsTotal Hcy concentration was quantified by high performance liquid chromatography (HPLC) in plasma. Hcy levels were evaluated in samples from 507 healthy individuals (260 children, 247 adults).ResultsRIs were estimated by nonparametric methods. We found significant differences between both age groups, but we did not find significant differences between sexes, within these groups. The established ranges were 2.56–14.55 µM and 3.63–17.19 µM for children and adults, respectively. Also, we observed a weak association between Hcy levels and age in both sex groups.ConclusionsThis is the first study that assesses Hcy reference values in Cuban population. Our results will allow the introduction of Hcy as a biochemical marker in laboratory testing.

scholarly journals Experience with the Urinary Tetrasaccharide Metabolite for Pompe Disease in the Diagnostic Laboratory

Metabolites ◽  
2021 ◽  
Vol 11 (7) ◽  
pp. 446
Author(s):  
Jennifer T. Saville ◽  
Maria Fuller
Keyword(s):  
Pompe Disease ◽  
Late Onset ◽  
Reference Interval ◽  
Laboratory Diagnosis ◽  
Reference Intervals ◽  
Confirmatory Test ◽  
Diagnostic Laboratory ◽  
Age Related ◽  
Initial Drop ◽  
Monitoring Treatment

Following clinical indications, the laboratory diagnosis of the inherited metabolic myopathy, Pompe disease (PD), typically begins with demonstrating a reduction in acid alpha-glucosidase (GAA), the enzyme required for lysosomal glycogen degradation. Although simple in concept, a major challenge is defining reference intervals, as even carriers can have reduced GAA, and pseudodeficiencies complicate interpretation. Here, we developed a mass spectrometric assay for quantification of a urinary glycogen metabolite (tetrasaccharide) and reported on its utility as a confirmatory test for PD in a diagnostic laboratory. Using two age-related reference intervals, eight returned tetrasaccharide concentrations above the calculated reference interval but did not have PD, highlighting non-specificity. However, retrospective analysis revealed elevated tetrasaccharide in seven infantile-onset (IOPD) cases and sixteen late-onset (LOPD) cases, and normal concentrations in one heterozygote. Prospective tetrasaccharide analysis in nine individuals with reduced GAA confirmed IOPD in one, LOPD in six and identified two heterozygotes. Using this metabolite as a biomarker of therapeutic response was not overly informative; although most patients showed an initial drop following therapy initiation, tetrasaccharide concentrations fluctuated considerably and remained above reference intervals in all patients. While useful as a confirmation of PD, its utility as a biomarker for monitoring treatment warrants further investigation.

scholarly journals Establishment of variation source and age-related reference interval models for 22 common biochemical analytes in older people using real-world big data mining

2020 ◽  
Vol 49 (6) ◽  
pp. 1062-1070
Author(s):  
Chaochao Ma ◽  
Liangyu Xia ◽  
Xinqi Chen ◽  
Jie Wu ◽  
Yicong Yin ◽  
...  
Keyword(s):  
Big Data ◽  
Older People ◽  
Real World ◽  
Reference Interval ◽  
Reference Intervals ◽  
Ageing Population ◽  
Factors Affecting ◽  
Age Related ◽  
The Status ◽  
Source Models

Abstract Background the ageing population has increased in many countries, including China. However, reference intervals (RIs) for older people are rarely established because of difficulties in selecting reference individuals. Here, we aimed to analyse the factors affecting biochemical analytes and establish RI and age-related RI models for biochemical analytes through mining real-world big data. Methods data for 97,220 individuals downloaded from electronic health records were included. Three derived databases were established. The first database included 97,220 individuals and was used to build age-related RI models after identifying outliers by the Tukey method. The second database consisted of older people and was used to establish variation source models and RIs for biochemical analytes. Differences between older and younger people were compared using the third database. Results sex was the main source of variation of biochemical analytes for older people in the variation source models. The distributions of creatinine and uric acid were significantly different in the RIs of biochemical analytes for older people established according to sex. Age-related RI models for biochemical analytes that were most affected by age were built and visualized, revealing various patterns of changes from the younger to older people. Conclusion the study analysed the factors affecting biochemical analytes in older people. Moreover, RI and age-related RI models of biochemical analytes for older people were established to provide important insight into biological processes and to assist clinical use of various biochemical analytes to monitor the status of various diseases for older people.

scholarly journals Intra- and interindividual variability of carbohydrate-deficient transferrin, γ-glutamyltransferase, and mean corpuscular volume in teetotalers

1998 ◽  
Vol 44 (10) ◽  
pp. 2120-2125 ◽  
Author(s):  
Anders Helander ◽  
Erling Vabö ◽  
Klas Levin ◽  
Stefan Borg
Keyword(s):  
Mean Corpuscular Volume ◽  
Iron Concentration ◽  
Reference Interval ◽  
Reference Intervals ◽  
Mean Value ◽  
Corpuscular Volume ◽  
Mean Values ◽  
Reference Limit ◽  
Carbohydrate Deficient Transferrin ◽  
The Mean

Abstract Blood samples for determination of the biochemical alcohol markers carbohydrate-deficient transferrin (CDT) in serum, γ-glutamyltransferase (GGT) in serum, and erythrocyte mean corpuscular volume (MCV) were collected once every 1–2 weeks over ∼5 months from 10 female and 4 male teetotalers. Mean values for serum CDT (using the CDTectTM assay) ranged from 9.9 to 29.4 units/L (median, 14.2 units/L), and the highest results were obtained in the women. The mean values for serum GGT ranged from 0.15 to 0.49 μkat/L (median, 0.30 μkat/L, or 18 U/L) except for one woman with a very high mean of 3.07 μkat/L. For MCV, the mean values ranged from 79.5 to 91.5 fL. Two women showed several CDT results above the upper reference limit (mean values, 27.6 and 29.4 units/L, respectively); however, their GGT and MCV values fell within the reference intervals. One of these women exhibited an increased total transferrin concentration (mean value, 5.38 g/L), which was possibly related to the use of oral contraceptives and/or a low serum iron concentration. When the CDTect value was expressed relative to total transferrin, a ratio within the reference interval was observed for this woman but not for the other woman with increased CDTect values. The present study demonstrates a considerable variation between individuals in CDT, GGT, and MCV without drinking any alcohol. The results also show that these baseline values are fairly constant over time within the same individual.

scholarly journals Reference Intervals (RIs) of Lipid Parameters for Nepalese Population

2018 ◽  
Vol 6 (4) ◽  
pp. 366-372
Author(s):  
R.V. Mahato ◽  
R.K. Singh ◽  
A. M. Dutta ◽  
K. Ichihara ◽  
M. Lamsal
Keyword(s):  
Total Cholesterol ◽  
Reference Values ◽  
Clinical Laboratory ◽  
Local Population ◽  
Density Lipoprotein ◽  
Physical Exertion ◽  
Hdl Cholesterol ◽  
Reference Interval ◽  
Reference Intervals ◽  
Lipoprotein Cholesterol

Introduction: Reference interval (RIs) is the range of values provided by laboratory scientists in a convenient and practical form to support clinician in interpreting observed values for diagnosis, treatment and monitoring of a disease. Laboratories in Nepal uses RIs, provided in the kit inserts by the manufacturers or from the scientific literature, established for western/European population. It is well known that population across the globe differs physiologically, genetically; race, ethnically, lifestyle, food habits and diet which have great impact on the reference values. Thus, it is inappropriate to use RIs that do not represent the local population. This approach highlights for establishing reference values in Nepalese population using the IFCC-CRIDL guidelines published in (C28-A3). Objectives: The objective of this study is to analyze blood lipids concentration in apparently healthy Nepalese population to set up reference values for total cholesterol (TC), triglycerides (TG), High Density Lipoprotein-cholesterol (HDL-C) and Low Density Lipoprotein-cholesterol (LDL-C) and compare with the internationally recommended values. Methods: Reference individuals selected from healthy volunteers according to the IFCC/C-RIDL protocol in (C28 –A3). Volunteers were requested to avoid excessive physical exertion/exercise/excessive eating and drinking and fast overnight for 10-12 hour. Blood samples were collected from 120 subjects from each five centers of the country between 7:00-10:00 am, serum were separated and refrigerated at -20 in a cryo-vials. Finally, 617 samples were transported to Yamaguchi University, Graduate School of Medicine, Ube, Japan for analysis in dry Ice and 30 parameters were measured by fully automated biochemistry analyzer, Beckman Coulter (BC480) in the clinical laboratory. Results: A reference interval for each parameter was calculated from the 95% reference intervals ranging from 2.5% and 97.5% percentiles and, arithmetic mean + 2 SD were also calculated. The 95% reference range for total cholesterol (2.53-6.14), triglyceride was(0.42-3.32),for HDL Cholesterol was (0.28-1.46), for LDL was(1.05-4.00) and for VLDL was (0.054-0.92) for Nepalese population. Conclusion: Nepalese clinicians can take into consideration of reference lipid values of this study for diagnosis, treatment and monitoring of disease. Int. J. Appl. Sci. Biotechnol. Vol 6(4): 366-372

scholarly journals Reference Interval for Renal Profile parameters in North Indian Population from Rajasthan

2015 ◽  
Vol 1 (5) ◽  
pp. 233
Author(s):  
Dharmveer Yadav ◽  
Monika Gupta ◽  
Sandhya Mishra ◽  
Praveen Sharma
Keyword(s):  
Uric Acid ◽  
Reference Values ◽  
Indian Population ◽  
Reference Interval ◽  
Progressive Increase ◽  
Reference Intervals ◽  
North Indian Population ◽  
The North ◽  
Indian Origin ◽  
Objective Reference

Objective: Reference intervals are an essential part of laboratory medicine. Current study was planned to evaluate renal parameters in the healthy defined group of individuals which would serve as reference values of renal parameters for the North Indian population from Rajasthan.Design & Methods: Present study was conducted on 2021 apparently healthy individuals of North Indian origin ranging in age from 15-60 years, were selected randomly using defined criteria. Fasting samples were analyzed for Urea, Creatinine, Uric Acid, Sodium, Potassium and Chloride. Data were analyzed for middle 95 percentile (2.5th-97.5th percentile), median and 95% confidence interval using SPSS software package version 10.0.Result: RI for Urea, Creatinine and uric acid were lower in female (16-42mg/dl, 0.6-1.2mg/dl, 2.4-6.8mg/dl) as compared to male (17.00-44.35mg/dl, 0.7-1.5mg/dl, 2.8-7.2mg/dl). There was a progressive increase in urea, uric acid and Creatinine with increase in age. Though no appreciable differences could be observed in respect to most of renal parameters in rural versus urban, a wider range for uric acid was observed in urban population (2.50-7.20mg/dl). Except for Na+, K+ and Cl-, rest of parameters i.e. urea, creatinine, uric acid were higher range in obese as compared to non obese (17-45 Vs 17-44, 0.66-1.5 Vs 0.60-1.40, 2.5-7.4 Vs 2.5-7.0). Uric acid level was also found to be higher in non vegetarian population (2.6-7.5mg/dl).Conclusion: Findings of this study provide sex, age, BMI, habitat and diet specific renal function reference values to be used for North Indian population.

Reference values for fructosamine concentrations in children's sera: influence of protein concentration, age, and sex.

1988 ◽  
Vol 34 (12) ◽  
pp. 2444-2447 ◽  
Author(s):  
J De Schepper ◽  
M P Derde ◽  
P Goubert ◽  
F Gorus
Keyword(s):  
Reference Values ◽  
Protein Concentration ◽  
Reference Intervals ◽  
Mean Value ◽  
Age Dependency ◽  
Serum Total Protein ◽  
Normal Children ◽  
Glycated Protein ◽  
The Mean ◽  
Mean Concentration

Abstract Fructosamine and protein (total and fractionated) were measured in the serum of 170 normal children, ages two weeks to 15 years. The mean fructosamine concentration was 2.12 mmol/L, 5% lower than the mean value observed for adults. We observed no sex-related difference in fructosamine values, but saw a pronounced age dependency of reference values. For children younger than three years, the mean concentration of fructosamine was 15% lower than in adults, but glycated protein concentrations increased with age, reaching essentially adult values by age six years. Expressing fructosamine concentrations per gram of serum total protein or of albumin weakened the influence of age, but did not eliminate it completely. We report reference intervals for fructosamine concentrations in children's sera.

Albumin and calcium reference interval using healthy individuals and a data-mining approach

2020 ◽  
Vol 57 (5) ◽  
pp. 373-381 ◽  
Author(s):  
N Jassam ◽  
A Luvai ◽  
D Narayanan ◽  
D Turnock ◽  
G Lee ◽  
...  
Keyword(s):  
Metrological Traceability ◽  
Reference Interval ◽  
Reference Population ◽  
Reference Intervals ◽  
Healthy Individuals ◽  
Reference Limit ◽  
Common Reference ◽  
Age Related ◽  
Upper Reference Limit ◽  
Analytical Platforms

Background Harmonization of reference intervals for analytes that have a sound calibration and metrological traceability is a widely recommended practice. The UK Pathology Harmony has recently harmonized reference intervals for calcium and albumin. In this study, we have determined the reference intervals for calcium and albumin on the UK’s most commonly used analytical platforms. Method A prospective reference population of healthy individuals was recruited according to the IFCC CRIDL criteria. A second indirect population was collected from 14 primary care setting and measured in laboratories using various analytical platforms and methods (Roche, Abbott, Beckman and Siemens analytical platforms). Results In total, 299 subjects were recruited; the central 95th centile values for calcium for three out of four analytical platforms were in a close agreement with UK Pathology Harmony reference intervals of 2.2–2.6 mmol/L. Reference intervals of BCG methods from both cohorts and irrespective of analytical platforms were higher for both lower and upper reference limits than those for BCP. In comparison, the indirect study showed an age-related variation. The younger population reference intervals varied by up to 5.7% at the lower reference limit and up to 12% at the upper reference limit compared with Pathology Harmony reference intervals, and the older population showed a variation of up to 14% at both limits. Conclusion While calcium reference intervals can be a subject for harmonization, albumin reference intervals studied showed large variation which is unsupportive of embracing a common reference interval for albumin.

Sign in / Sign up

Export Citation Format

Share Document