Wei Xuemei, Lei Min, Deng Jikui. Asymptomatic Methylmalonic Acidemia with Initial Diagnosis of Rotavirus Enteritis: A Case Report and Literature Review[J]. 2020,26(5):24-26.
Wei Xuemei, Lei Min, Deng Jikui. Asymptomatic Methylmalonic Acidemia with Initial Diagnosis of Rotavirus Enteritis: A Case Report and Literature Review[J]. 2020,26(5):24-26. DOI: 10.13407/j.cnki.jpp.1672-108X.2020.05.007.
Objective: To probe into the clinical experience of diagnosis for one child with asymptomatic methylmalonic acidemia (MMA) with initial diagnosis of rotavirus enteritis. Methods: The clinical data of one child diagnosed with asymptomatic MMA with initial diagnosis of rotavirus enteritis were retrospectively analyzed
and the relevant literature were reviewed. Results: The child developed metabolic acidosis
ketonuria
hyperventilation
high blood ammonia
and multiple organ failure after rotavirus infection. After improvement of blood tandem mass spectrometry
urinary gas chromatography-mass spectrometry (GCMS) and gene detection
the diagnosis of methylmalonacidemia (MUT type) was confirmed. The child recovered after feeding with special milk powder
supplementing with levocarnitine and vitamin B12
ventilator assisted ventilation
blood purification and Extracorporeal Membrane Oxygenation (ECMO) treatment. Conclusion: For critically ill children
even if there is no suspicious family history and clinical symptoms of MMA
it cannot be easily ruled out. Once suspicious signs
it is necessary to improve the relevant examination and experimental treatment as soon as possible