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Sudden and unexpected death in a young child. 'Crib death' in an older child

Sudden and unexpected death in a young child. 'Crib death' in an older child

Tijdschrift Voor Kindergeneeskunde 61(3): 93-96

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.

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Accession: 047478271

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PMID: 8211942

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