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Familial infantile apnea and immature beta oxidation
A K Iafolla1, I B Browning, C R Roe
1Division of Biochemical Genetics, Duke University Medical Center, Durham, North Carolina 27710 USA.
Insights
Inborn errors of fatty acid metabolism can cause infant breathing issues and sudden infant death syndrome (SIDS). Early L-carnitine treatment improved siblings with these metabolic defects, preventing SIDS.
Area of Science:
- Biochemistry
- Pediatrics
- Genetics
Background:
- Inborn errors of fatty acid metabolism (FAWM) are associated with significant infant morbidity and mortality, including apnea, periodic breathing, and sudden infant death syndrome (SIDS).
- Metabolic pathways crucial for development mature during gestation and postnatally, making infants vulnerable to disruptions.
- Early recognition and therapeutic intervention are critical for preventing adverse outcomes in affected infants.
Observation:
- A family presented with three siblings exhibiting apnea and periodic breathing.
- One infant experienced a witnessed sudden infant death (SIDS).
- The surviving two siblings demonstrated biochemical defects suggestive of a non-specific beta-oxidation abnormality.
Findings:
- The two surviving siblings were treated with L-carnitine supplementation.
- L-carnitine therapy led to rapid resolution of both respiratory and metabolic abnormalities.
- Enzyme activity assays for short, medium, and long-chain acyl-CoA dehydrogenases were normal in the treated survivors, indicating a unique or unidentified enzymatic deficiency.
Implications:
- This case series highlights the importance of routine biochemical evaluation for infants presenting with acute life-threatening events (ALTE), previously known as "near miss" SIDS.
- Prompt metabolic assessment should also be considered for infants who have died of SIDS to identify underlying treatable disorders.
- L-carnitine supplementation may be a beneficial therapeutic strategy for infants with specific, yet unidentified, fatty acid oxidation defects presenting with respiratory compromise.
Abstract:
Infants with inborn errors of fatty acid metabolism may present with apnea, periodic breathing, and sudden infant death syndrome (SIDS). Recognition of these disorders and initiation of appropriate therapy may prevent SIDS. Metabolic pathways develop during gestation and post-natally. We report three siblings with apnea and periodic breathing, as well as biochemical defects consistent with a non-specific abnormality of beta oxidation. One infant died a witnessed sudden infant death. The two survivors were treated with L-carnitine supplementation resulting in rapid resolution of both respiratory and metabolic abnormalities. Enzyme activity for short, medium, and long chain acyl coenzyme A dehydrogenases was normal in these two infants. Although a unique enzymatic deficiency was not identified, our experience with this family supports the need for routine biochemical evaluation of infants with "near miss" SIDS, also called acute life-threatening events (ALTE), as well as those who have died of SIDS.