Familial infantile apnea and immature beta oxidation.
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.
Division of Biochemical Genetics, Duke University Medical Center, Durham, North Carolina 27710 USA.
A K
AK
Iafolla
I B
IB
Browning
C R
CR
Roe
D001049:Apnea / Q000150:complications* / Q000235:genetics* / Q000378:metabolism; D002331:Carnitine / Q000378:metabolism / Q000627:therapeutic use; D004200:Diseases in Twins; D005227:Fatty Acids / Q000378:metabolism*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008052:Lipid Metabolism, Inborn Errors / Q000150:complications* / Q000235:genetics* / Q000628:therapy; D013398:Sudden Infant Death / Q000235:genetics
D005227:Fatty Acids; D002331:Carnitine