Revista Cubana de Pediatría
On-line version ISSN 1561-3119
ALVAREZ FUMERO, Roberto. ¿Son los errores congénitos del metabolismo causa prevenible de muerte súbita?. Rev Cubana Pediatr [online]. 2004, vol.76, n.1, pp. 0-0. ISSN 1561-3119.
The sudden infant death syndrome (SIDS) is not an isolated process, but a multifactorial and multicausal event, of which there are less potentially diagnosable alterations every day, turning into an exclusion diagnosis. Some congenital errors of metabolism have been associated with SDSI and/or with apparently lethal episodes, although most of them may have some clinical expression that makes them potentially diagnosable before death, allowing to eliminate them from the causes of SIDS. Of them, the most closely related to SIDS are the disorders of mitochondrial betaoxidation of fatty acids. Only from 3 to 5 % of the SIDS may be related to CEM. The greatest impact of knowing about the association of SIDS and about these disorders is precisely the possibility of its prevention. The medical personnel should know that the most efficient way to prevent SIDS connected with CEM is the active search for infants at risk, on making an exhaustive anamnesis. These cases should be object of specialized metabolic studies for which it is indispensable to know the requisites of obtention, conservation and transfer of samples to the Reference Laboratory.
Keywords : METABOLISM, INBORN ERRORS; SUDDEN INFANT DEATH [etiology]; SUDDEN INFANT DEATH [diagnosis]; SUDDEN INFANT DEATH [prevention & control]; FATTY ACIDS [metabolism].