Clinico-Biochemical Presentation of Classical Organic Aciduria Presenting as Intoxication in Tertiary Care Hospital of Peshawar

Abstract

Background: About 5 million children died in 2017 in developing countries alone, amongst them 15-20% are due to inherited metabolic disorders. Inherited metabolic disorders like Methyl Malonic Aciduria, Isovaleric aciduria, Glutaric Aciduria type 1, Urea cycle defects, Maple syrup urine disease & multiple carboxylase deficiency present mostly as intoxication, ataxia and convulsions Objective:To find the pattern of classical organic aciduria in children of different age and gender Methodology: This cross-sectional descriptive study was conducted at Paediatrics department of Town Women & Children Hospital, Peshawar from Aug 2018- Aug 2020. Patients aged 0-24 months were included in the study based on inclusion criteria.Clinical data, preliminary investigations and urinary organic acids profile were collected. Data were analysed using SPSS version 21. Results: Out of 178 total patients, 36 patients were diagnosed with classical Organic aciduria in this present study. Mean age of the study population was 0.865+/- 1.07654 years and range of 1 - 2 years. About 20(53%) cases were males, while 16(47%) cases were females. Major clinical and biochemical findings included seizures, feeding difficulties, developmental delay, neurological impairment, and motor weakness, hypoglycemic and metabolic acidosis. Conclusion: The cases positive for inherited metabolic disorder showed a significant prevalence. Methyl Malonic Aciduria was the commonest of the OAs found in Northern areas of Pakistan followed by 3- Methyl Glutaconic aciduria.Simple heel prick test alongside blood gas analysis and confirmatory test by urinary Gas Chromatography Mass Spectrometry were helpful in diagnosis of such inherited metabolic disorder. Keywords: Intoxication; Organic aciduria;Ethyl Malonic aciduria; Fumaric Aciduria