Diagnostic Workup of Inherited Metabolic Disorders using Amino Acid Profiling
DOI:
https://doi.org/10.51253/pafmj.v76i1.10971Keywords:
High Performance Liquid Chromatography, Inherited Metabolic Diseases, Plasma Amino AcidsAbstract
Objective: To assess amino acid profiling-appropriate utility for diagnosing inherited metabolic diseases.
Study Design: Retrospective observational study.
Place and Duration of Study: Armed Forces Institute of Pathology, Rawalpindi Pakistan, from Jan 2021 to Dec 2022.
Methodology: The study comprised of a total of 1128 cases enrolled over the period of two years. The analysis of plasma amino acids was done on Biochrome 30+ by Ion Exchange Chromatography using a lithium column diameter of 4.6 mm. Our study included infants and children of either gender from 3 days to 18 months of age having symptoms of developmental delay, deranged laboratory investigations and suspicion of inherited metabolic diseases (IMDs). Chi-Square test was applied to check the correlation between age of patients and different diagnosed parameters.
Results: Out of 1128 cases, 46 cases (4.0%) came out to be positive for IMDs over the period of two years with more percentage of females 24(52.2%) than males 22(47.8%). The maximum number of cases 14(30.4%) reported were of Maple Syrup Urine Disorder (MSUD), a branched chain metabolic disorder, followed by Non-Ketotic Hyperglycinemia (NKH) 21.7%. All these cases had deranged biochemical profiles with a history of developmental delay.
Conclusion: Diagnosis of inherited metabolic diseases (IMDs) should involve plasma amino acid analysis keeping in view the biochemical findings and differential diagnosis to avoid unnecessary financial burden on the patient’s family and the diagnostic laboratories.
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Copyright (c) 2026 Muhammad Usman Munir, Nayab Zehra, Muhammad Qaiser Alam Khan, Nisar Ahmed
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