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Methylmalonic acidemia mimicking diabetic ketoacidosis and septic shock in infants

Navdeep Saini1, Ashwini Malhotra1, Sanjay Chhabra1

  • 1Department of Paediatrics and Paediatric Dermatology, Sigma Hospital Child and Maternity Centre, Jalandhar, Punjab, India.

Indian Journal of Critical Care Medicine : Peer-Reviewed, Official Publication of Indian Society of Critical Care Medicine
|March 27, 2015
PubMed

Insights

Methylmalonic acidemia (MMA), a common inherited metabolic disorder, can present with severe symptoms mimicking emergencies like DKA and septic shock in infants. Early suspicion in infants with metabolic acidosis is crucial for timely diagnosis and treatment.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Methylmalonic acidemia (MMA) is the most common inherited organic acidemia.
  • It presents with diverse clinical manifestations in infants, often without early symptoms.
  • MMA can lead to sudden, life-threatening metabolic decompensation.

Observation:

  • Infants with MMA may present with symptoms mimicking common critical conditions.
  • These include septic shock and diabetic ketoacidosis (DKA).
  • Delayed recognition of MMA can be fatal.

Findings:

  • The study reports two cases of MMA in infants with acute presentations.
  • These cases mimicked DKA and septic shock.
  • High anion gap metabolic acidosis in infants warrants suspicion of inborn errors of metabolism.

Implications:

  • Highlights the importance of considering MMA in infants with unexplained metabolic acidosis.
  • Emphasizes the need for prompt diagnosis to prevent fatal outcomes.
  • Underscores the diagnostic challenge posed by MMA's varied and sometimes deceptive presentation.
Keywords:
Anion gapmetabolic acidosismethylmalonic acidemia

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