[Sudden and unexpected death in a young child. 'Crib death' in an older child].
The history of a toddler who died suddenly and unexpectedly is given. The day before the child suffered from gastro-enteritis. Postmortem examination revealed hypoglycemia. Urine-analysis was highly suspective of a medium chain acyl-CoA dehydrogenase deficiency. This diagnosis was confirmed by further family-investigation, including identification of the common point mutation in this disorder. The consequence of such a deficiency is discussed.
Wierenga
H
H
Afd. Kindergeneeskunde, Wilhelmina Ziekenhuis, Assen.
Smit
G P
GP
D044944:Acyl-CoA Dehydrogenases / Q000172:deficiency*; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D007223:Infant; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics; D010375:Pedigree; D013398:Sudden Infant Death / Q000209:etiology*
D044944:Acyl-CoA Dehydrogenases
Een plotseling en onverwacht overleden peuter. 'Wiegedood' bij een ouder kind.