Sudden infant death syndrome and inherited disorders of fatty acid beta-oxidation.
Evidence that inherited disorders of mitochondrial fatty acid beta-oxidation can cause sudden infant death syndrome (SIDS) comes from case reports, systematic autopsy studies, and family studies. Family studies are important when no pediatric autopsy has been done, which is still frequent. After reviewing the fatty acid beta-oxidation, and its pathophysiology, we present the results of our metabolic study on 189 siblings of SIDS victims, and on 84 'near-miss' infants. We have found evidence for a disorder of fat oxidation in 28 (15%) infants in the first group, and in 14 (17%) infants in the second group. Diagnosing and treating such disorders early in infancy may prevent some cases of SIDS to occur.
Harpey
J P
JP
Clinique de Pédiatrie Génétique Médicale, Unité de Maladies Métaboliques, Hôpital de la Salpêtrière, Paris, France.
Charpentier
C
C
Paturneau-Jouas
M
M
D000272:Adipates / Q000652:urine; D000293:Adolescent; D002331:Carnitine / Q000097:blood / Q000172:deficiency / Q000652:urine; D002648:Child; D002675:Child, Preschool; D044943:Fatty Acid Desaturases / Q000172:deficiency; D005227:Fatty Acids / Q000097:blood / Q000378:metabolism*; D006801:Humans; D007223:Infant; D008052:Lipid Metabolism, Inborn Errors / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy / Q000503:physiopathology; D008314:Malonates / Q000652:urine; D010084:Oxidation-Reduction; D013398:Sudden Infant Death / Q000209:etiology* / Q000517:prevention & control
D000272:Adipates; D005227:Fatty Acids; D008314:Malonates; C038080:ethylmalonic acid; C029900:adipic acid; D044943:Fatty Acid Desaturases; D002331:Carnitine