Shahzad Haider, Abdul Wahab, Madiha Fayyaz, Sajid Nazir, Sibtain Ahmad, Lubna Ehtizaz.
Role of Plasma Amino Acid and Urine Organic Acid for the Diagnosis of Inborn Errors of Metabolism in Children with Developmental Impairment.
Pak Paed J Jan ;45(4):389-94.

Objective: The inborn errors of metabolism (IEM) can lead to developmental impairment in children. Aim of the study is to find out the role of plasma amino acid and urine organic acid in diagnosing IEM. Study Design: In this cross sectional prospective study, children from 6 months to 6 years of age either with developmental delay or developmental regression were included. Plasma amino acid and urine organic acid test were advised in all these children. Place and Duration of Study: Pediatric Neurology OPD of Izzat Ali Shah Hospital in Wah Cantt from January 2019 to September 2020 Material and Methods: Plasma amino acids and urine organic acid analysis was performed at Aga Khan University Hospital Karachi. Results: A total of 54 children were enrolled who presented with either developmental delay (n=44) or developmental regression (n=10). There were 35 male and 19 female children. Neuro-imaging findings were abnormal in 20 (37%) while EEG was abnormal in 9 (17%) children. Plasma amino acid showed metabolic abnormality in 3 (6%) cases (p value= 0.506) and urine organic acid identified metabolic disorder in 9 (16.6%) children (p value =0.218). The diagnostic yield of combined plasma amino acid and urine organic test was 20%. Conclusion: Plasma amino acid and urine organic acid are useful tests in diagnosing inborn errors of metabolism responsible for developmental delay or developmental regression. Further studies in large scale are required to look for its usefulness.

PakMediNet -Pakistan's largest Database of Pakistani Medical Journals - http://www.pakmedinet.com