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The objective of the study was to interpret metabolic profiles of plasma amino acid (PAA) and compare reference intervals (RI) of PAA data from Pakistan with data from other countries using Clinical Laboratory Integrated Reports (CLIR). One-year data (reference and cases data) of twenty-two PAA, analyzed by ion exchange high performance chromatography at Biochemical Genetics Laboratory (BGL) of Aga Khan University Pakistan, was compiled in a comma-separated values (.csv) file and uploaded on CLIR Software using AAQP (Amino Acid in Plasma) application for statistical analysis. Among total of 2081 PAA profiles, 92% (n=1913) were completely normal with all PAA values falling within the age-specific reference range. A concordance of 98.8% was noted between the reporting done by the BGL at AKU and then after applying CLIR tools.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Cases Data | subjects having abnormal plasma amino acid profiles with either one or more amino acid concentrations beyond (high or low) the locally defined age-specific reference ranges |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Plasma amino acid assay | Diagnostic Test | Plasma amino acid analysis was performed on all the blood samples received in biogenetics lab at Aga khan university, Karachi during one year period. |
| Measure | Description | Time Frame |
|---|---|---|
| postanalytical interpretation of concentration of plasma leucin, isoleucine and valine in nmol/L using Clinical Laboratory Integrated Reports (CLIR) | Clinical Laboratory Integrated Reports (CLIR, formerly Region 4 Stork) is a post-analytical software that compares the amino acid results against a large database of reference ranges, disease-specific cutoffs, and ratios of diagnostic markers. Among 168 subjects having abnormal PAA profiles in our lab, 10.1% were correctly classified as MSUD and 100% concordance with CLIR reporting. | 1 year |
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Inclusion Criteria:
All plasma samples during 1 year received at Biogenetic Lab
Exclusion Criteria:
Subjects with age greater than 16 years
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Data of all those who had Plasma amino acid analyzed at the Biogenetic laboratory of Aga Khan University, symptomatic as well as asymptomatic children with suspicion of Inherited Metabolic Disorders (IMDs), from August 2019-August 2020 were included. Plasma amino acids analysis was performed using cation-exchange high-performance liquid chromatography (HPLC) on Biochrom 30+ model using lithium column diameter 4.6 mm and detected at 440/570 nm.
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| Name | Affiliation | Role |
|---|---|---|
| Dr lena Jafri | Aga khan hospital karachi, Pakistan | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Aga Khan University Hospital | Karachi | Sindh | 74800 | Pakistan |
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| ID | Term |
|---|---|
| D008661 | Metabolism, Inborn Errors |
| ID | Term |
|---|---|
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
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