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VOLUME 19 , ISSUE 3 ( 2015 ) > List of Articles

CASE REPORT

Methylmalonic acidemia mimicking diabetic ketoacidosis and septic shock in infants

Ashwini Malhotra, Navdeep Saini, Sanjay Chhabra, Sunny Chhabra

Keywords : Anion gap, metabolic acidosis, methylmalonic acidemia

Citation Information : Malhotra A, Saini N, Chhabra S, Chhabra S. Methylmalonic acidemia mimicking diabetic ketoacidosis and septic shock in infants. Indian J Crit Care Med 2015; 19 (3):183-185.

DOI: 10.4103/0972-5229.152776

License: CC BY-ND 3.0

Published Online: 01-03-2015

Copyright Statement:  Copyright © 2015; Jaypee Brothers Medical Publishers (P) Ltd.


Abstract

Methylmalonic acidemia (MMA) is most common inherited type of organic acidemia. It has diverse presentation in older infants without any initial apparent symptoms. MMA sometimes present with sudden metabolic decompensation, which may mimics common emergencies like septic shock and diabetic ketoacidosis (DKA) without early recognition can be fatal. In born error of metabolism especially organic acidemia should be suspected in any infant presented with severe high anion gap metabolic acidosis. We report two cases of MMA in infants presented acutely mimicking DKA and septic shock.


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  1. Fenton WA, Gravel RA, Rosenblatt DS. Disorders of propionate and methylmalonate metabolism. In: Scriver CR, editors. The Metabolic and Molecular Bases of Inherited Diseases. 8 th ed. New York: McGraw-Hill; 2001. p. 2165-92.
  2. Hörster F, Hoffmann GF. Pathophysiology, diagnosis, and treatment of methylmalonic aciduria-recent advances and new challenges. Pediatr Nephrol 2004;19:1071-4.
  3. Karam PE, Habbal MZ, Mikati MA, Zaatari GE, Cortas NK, Daher RT. Diagnostic challenges of aminoacidopathies and organic acidemias in a developing country: A twelve-year experience. Clin Biochem 2013;46:1787-92.
  4. Fenichel GM. Clinical pediatric neurology: A signs and symptoms approach: Elsevier Health Sciences; 2009.
  5. Swaiman K. Aminoacidopathies and organic acidemias resulting from deficiency of enzyme activity. Swaiman KF, editor. Pediatric Neurology-Principles and Practice. 2 nd Ed. Missouri:Mosby. 1994:1195-232.
  6. Dionisi-Vici C, Deodato F, Röschinger W, Rhead W, Wilcken B. ′Classical′ organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: Long-term outcome and effects of expanded newborn screening using tandem mass spectrometry. J Inherit Metab Dis 2006;29:383-9.
  7. Saudubray JM, Ogier H, Charpentier C, Depondt E, Coudé FX, Munnich A, et al. Hudson memorial lecture. Neonatal management of organic acidurias. Clinical update. J Inherit Metab Dis 1984;7 Suppl 1:2-9.
  8. Srinivas KV, Want MA, Freigoun OS, Balakrishna N. Methylmalonic acidemia with renal involvement: A case report and review of literature. Saudi J Kidney Dis Transpl 2001;12:49-53.
  9. Song YZ, Li BX, Hao H, Xin RL, Zhang T, Zhang CH, et al. Selective screening for inborn errors of metabolism and secondary methylmalonic aciduria in pregnancy at high risk district of neural tube defects: A human metabolome study by GC-MS in China. Clin Biochem 2008;41:616-20.
  10. Vaidyanathan K, Narayanan MP, Vasudevan DM. Organic acidurias: An updated review. Indian J Clin Biochem 2011;26:319-25.
  11. Avery ME, First LR. Pediatric Medicine. 2 nd ed. Baltimore: Williams and Wilkins, Waverly Company; 1994. p. 1075.
  12. Matsui SM, Mahoney MJ, Rosenberg LE. The natural history of the inherited methylmalonic acidemias. N Engl J Med 1983;308:857-61.
  13. Ledley FD, Levy HL, Shih VE, Benjamin R, Mahoney MJ. Benign methylmalonic aciduria. N Engl J Med 1984;311:1015-8.
  14. Holliday MA, Barrat M, Arner ED. Pediatric Nephrology. 3 rd ed. Baltimore: William and Wilkins; 1994. p. 890.
  15. Guven A, Cebeci N, Dursun A, Aktekin E, Baumgartner M, Fowler B. Methylmalonic acidemia mimicking diabetic ketoacidosis in an infant. Pediatr Diabetes 2012;13:e22-5.
  16. Clarke JTR. A clinical guide to inherited metabolic diseases. Cambridge: Cambridge University Press; 1996. p. 280.
  17. Rezvani I. Defects in metabolism of amino acids. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, editors. Nelson Textbook of Pediatrics. 18 th ed. Philadelphia: Saunders; 2007. p. 547-8.
  18. Boeckx RL, Hicks JM. Methylmalonic acidemia with the unusual complication of severe hyperglycemia. Clin Chem 1982;28:1801-3.
  19. Kumar S, Suthar R. Methylmalonic acidemia and hyperglycemia: An unusual association. Brain Dev 2013;35:185.
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