Methylmalonic acidemia: A Rare Case Report from Rural India


  • Dr. Neha Khadke Department of Paediatrics, DVVPFs Medical College & Hospital, Ahmednagar-414111, Maharashtra
  • Dr. Abhijit Shinde
  • Prof. Dr. Sunil Natha Mhaske
  • Dr. Suresh Waydande



Inborn errors of metabolism, Metabolic acidosis, Acute liver failure, Tandem mass spectrometry, Gas chromatography-mass spectrophotometry, Newborn screening


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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Rosenberg LE. Disorders of propionate and methylmalonate metabolism. Metabolic basis of inherited disease/[edited by] John B. Stanbury...[et al.]. 1983.

Fenichel GM. Clinical pediatric neurology: a signs and symptoms approach. Elsevier Health Sciences; 2009.

Mandava P. Methylmalonic Acidemia.Nyhan WL, Sakati NA. Methyl malonic acidemia. Diagnostic Recognition of Genetic Disease. 1987. 42-50.

Stenton SL, Kremer LS, Kopajtich R, Ludwig C, Prokisch H. The diagnosis of inborn errors of metabolism by an integrative “multi?omics” approach: A perspective encompassing genomics, transcriptomics, and proteomics. Journal of inherited metabolic disease. 2020 Jan;43(1):25-35.

Marques EP, Wyse AT. Creatine as a neuroprotector: an actor that can play many parts. Neurotoxicity Research. 2019 Aug 15;36:411-23.

Guerrero RB, Kloke KM, Salazar D. Inborn errors of metabolism and the gastrointestinal tract. Gastroenterology Clinics. 2019 Jun 1;48(2):183-98.

Canton M, Le Gall D, Feillet F, Bonnemains C, Roy A. Neuropsychological profile of children with early and continuously treated phenylketonuria: systematic review and future approaches. Journal of the International Neuropsychological Society. 2019 Jul;25(6):624-43.

Baumgartner MR, Hörster F, Dionisi-Vici C, Haliloglu G, Karall D, Chapman KA, Huemer M, Hochuli M, Assoun M, Ballhausen D, Burlina A. Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet journal of rare diseases. 2014 Dec;9(1):1-36.

Wajner M, Barschak AG, Luft AP, Pires R, Grillo E, Lohr A, Funayama C, Sanseverino MT, Giugliani R, Vargas CR. Organic aciduria: diagnosis in high-risk patients in Brazil. Journal of Pediatrics. 2001;77:401-6.

Fraser JL, Venditti CP. Methylmalonic and propionic acidemias: clinical management update. Current opinion in pediatrics. 2016 Dec;28(6):682. H

Hauser NS, Manoli I, Graf JC, Sloan J, Venditti CP. Variable dietary management of methylmalonic acidemia: metabolic and energetic correlations. The American journal of clinical nutrition. 2011 Jan 1;93(1):47-56.

Schwartz IV, Souza CF, Giugliani R. Treatment of inborn errors of metabolism. Jornal de pediatria. 2008;84:S8-19.

Zhou X, Cui Y, Han J. Methylmalonic acidemia: Current status and research priorities. Intractable & rare diseases research. 2018 May 31;7(2):73-8.




How to Cite

Khadke, D. N., Shinde, D. A. ., Mhaske, P. D. S. N., & Waydande, D. S. . (2023). Methylmalonic acidemia: A Rare Case Report from Rural India. VIMS Health Science Journal, 10(2), 50–53.



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