Abbreviations
- CPK :
-
creatinine phosphokinase
- ETF :
-
electro transfer flavoprotein
- MAD :
-
multiple-acyl-CoA-dehydrogenation disorders
References
Boles RG, Martin SK, Blitzer MG, Rinaldo P (1994) Biochemical diagnosis of fatty acid oxidation disorders by metabolite analysis of postmortem liver. Hum Pathol 25 (in press)
Colombo I, Finocchiaro G, Garavaglia B, Garbuglio N, Yamaguchi S, Frerman FE, Berra B, DiDonato S (1994). Mutations and polymorphisms of the gene encoding the β subunit of the electron transfer flavoprotein in three patients with glutaric acidemia type II. Hum Mol Genet 3:429–435
DiDonato S, Garavaglia B, Strisciuglio P, Borrone C, Andria G (1988) Multisystem triglyceride storage disease is due to a specific defect in the degradation of endocellularly synthesized triglycerides. Neurology 38:1107–1110
Harpey JP, Charpentier C, Coudé M, Divry P, Paturneau-Jouas M (1987). Sudden infant death syndrome and multiple acyl-coenzyme A dehydrogenase deficiency, ethylmalonic adipic aciduria, or systemic carnitine deficiency. J Pediatr 110:881–884
Pollitt RJ (1993) Defects in mitochondrial fatty acid oxidation: Clinical presentations and their role in sudden infant death. Paediatr Paedol 28:13–17
Roe CR, Millington DS, Maltby DA, Kinnebrew P (1986) Recognition of medium-chain acyl-CoA dehydrogenase deficiency in asymptomatic siblings of children dying of sudden infant death of Reyelike syndromes. J Pediatr 108:13–18
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Parini, R., Vegni, C., Martini, J. et al. Sudden infant death and multiple acyl-CoA dehydrogenation disorders. Eur J Pediatr 154, 421–422 (1995). https://doi.org/10.1007/BF02072123
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF02072123