What are the signs and symptoms of inborn errors of metabolism in brief resolved unexplained events (BRUEs) (apparent life-threatening events) (ALTEs)?

Updated: Feb 28, 2019
  • Author: Patrick L Carolan, MD; Chief Editor: Girish D Sharma, MD, FCCP, FAAP  more...
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Answer

Answer

A Japanese study sought to determine the association between ALTE and inborn errors of metabolism, particularly organic acidemia and fatty acid oxidation disorders. The majority of the infants in this study group with subsequently identified inborn error of metabolism had a history of poor feeding and somnolence during the neonatal period, and symptoms of infection such as cough, fever or vomiting precipitating an acute metabolic crisis manifesting as an ALTE. Many of these infants had active symptoms at the time of their acute evaluation in contrast to the typical BRUE presentation.  The study concluded that when ALTE is encountered in the emergency unit, samples such as urine, serum, and filter paper blood specimens should be considered for tandem mass spectrometry of organic acids and acylcarnitines, to identify inborn metabolic disorders. [18]


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