Methylmalonic acidemia: A Rare Case Report from Rural India
DOI:
https://doi.org/10.46858/vimshsj.10204Keywords:
Inborn errors of metabolism, Metabolic acidosis, Acute liver failure, Tandem mass spectrometry, Gas chromatography-mass spectrophotometry, Newborn screeningAbstract
Methylmalonic acidemia is an autosomal recessive disorder of amino acid metabolism, involving a defect in the conversion of methylmalonyl-coenzyme A (CoA) to succinyl-CoA. Patients typically present at the age of 1 month to 1 year since symptoms usually do not present themselves until proteins are added to the infant's diet. We report a case of 4.5-month-old male, was brought to the hospital by the relatives with a history of GTCS type of convulsions. Child suspected to have been diagnosed with inborn errors of metabolism so workup for the same done and patient diagnosed with methylmalonic acidemia. Many cases of inborn error of metabolism are asymptomatic and undetected. This case highlights the importance of considering methylmalonic academia in newborn screening program for early detection and timely intervention, which help to improve survival and prevent children from developmental and metabolic abnormalities.
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Copyright (c) 2024 Dr. Neha Khadke, Dr. Abhijit Shinde, Prof. Dr. Sunil Natha Mhaske, Dr. Suresh Waydande
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