Investigação bioquímica e molecular na morte súbita do lactente (SIDS)

Translated title of the contribution: Sudden infant death syndrome - Molecular and biochemical investigation

M. L. Cardoso, J. Pinheiro, C. Pereira, C. Sousa, C. Nogueira, A. Tesa, A. Ramos, A. Balreira, C. Lima, C. Valongo, D. Couto, D. Quelhas, H. Fonseca, H. Rocha, L. Almeida, R. Rodrigues, R. Santos, F. M. Santorelli, Laura Vilarinho

Research output: Contribution to journalArticlepeer-review

Abstract

SIDS (Sudden Infant Death Syndrome) is the sudden and unexpected death of an infant which remains unexplained after thorough case investigation, including performance of a complete autopsy, examination of death scene, and review of clinical history. Metabolic disorders can lead to sudden dead because they cause crises of intoxication and life threatening, with dysfunction of several organs, that raise the risk of general failure. Objectives: Our main objective with this study, was to evaluate the significance of metabolic disorders and energy deficiencies in sudden infant death syndrome, in Portuguese population. Patients and Methods: We got biological frozen samples from 51 children whose cause of dead was unknown. The products were collected during autopsy and included: serum, urine, humour vitreous, muscle and liver. In the biological fluids samples we analysed amino acids as well as organic acids, and in referred tissues we determinate the activity of the respiratory chain complexes and the amount of glycogen. It was also possible to get total DNA from solid tissues which was used for molecular studies. Results: Based on molecular findings, it was possible to identify one case of fructose intolerance - HFI (patient homozygous for A149P in ALDOB gene). Biochemical studies revealed one case of very long-chain acyl-CoA dehydrogenase - VLCAD deficiency. However, in the majority of the assays performed deviations from normal controls were found, due to catabolism post-morten (plasmatic increase of amino acids and high excretion of lactic acid in urine). Conclusions: In metabolic disorders the risk of recurrence exists. The misdiagnosed inherited errors of metabolism as SIDS, it is important for the family, in terms of treatment, prevention attitude and genetic counselling.

Translated title of the contributionSudden infant death syndrome - Molecular and biochemical investigation
Original languagePortuguese
Pages (from-to)195-200
Number of pages6
JournalNascer e Crescer
Volume13
Issue number3
Publication statusPublished - 2004

Keywords

  • LCHAD
  • MCAD
  • Metabolic disorders
  • Mitochondrial respiratory chain disorders
  • SIDS

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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