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Metabolic disease in 10 patients with sudden unexpected death in infancy or acute life-threatening events

Tomoo Takahashi1, Kenji Yamada1, Hironori Kobayashi1

  • 1Department of Pediatrics, Shimane University Faculty of Medicine, Izumo, Shimane, Japan.

Pediatrics International : Official Journal of the Japan Pediatric Society
|April 29, 2015
PubMed

Insights

Inborn errors of metabolism are linked to sudden unexpected death in infancy (SUDI) and acute life-threatening events (ALTE). Early metabolic testing is crucial for infants with SUDI or ALTE to identify these conditions.

Area of Science:

  • Biochemistry
  • Pediatrics
  • Genetics

Background:

  • Sudden unexpected death in infancy (SUDI) and acute life-threatening events (ALTE) pose significant diagnostic challenges.
  • Inborn errors of metabolism (IEMs) are increasingly recognized as potential underlying causes for these critical events.
  • Organic acidemia and fatty acid oxidation disorders are specific IEMs that warrant investigation.

Purpose of the Study:

  • To investigate the association between IEMs and SUDI/ALTE.
  • To evaluate the clinical features and diagnostic findings in infants presenting with SUDI or ALTE who have underlying metabolic disorders.

Main Methods:

  • Retrospective analysis of infants aged 7 days to 3 years diagnosed with SUDI or ALTE between 2004 and 2013.
  • Diagnosis of IEMs using gas chromatography-mass spectrometry (GC/MS) and/or tandem mass spectrometry (MS/MS).
  • Evaluation of clinical presentation, neonatal history, and routine laboratory findings during the acute phase.

Main Results:

  • IEMs were identified in 3 of 196 SUDI cases and 7 of 167 ALTE cases.
  • Nine of the ten affected infants exhibited neonatal poor feeding, somnolence, and/or infectious symptoms like cough, fever, or vomiting.
  • Key laboratory abnormalities included hyperammonemia, liver dysfunction, elevated creatine kinase, acidosis, ketonuria/ketonemia, and hypoglycemia.

Conclusions:

  • IEMs are an important consideration in the differential diagnosis of SUDI and ALTE.
  • Detailed neonatal history and targeted laboratory investigations, including metabolic screening (GC/MS/MS), are essential in the emergency evaluation of infants with SUDI/ALTE.
  • Prompt identification of IEMs can guide appropriate management and potentially prevent future events.

Keywords:
apparent life-threatening eventgas chromatographyinborn error of metabolismsudden unexpected death in infancytandem mass spectrometry

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