SUDDEN UNEXPECTED INFANT DEATH AND MEDIUM -CHAIN ACYL-COA DEHYDROGENASE (MCAD) DEFICIENCY

Authors
SANTER R SCHMIDTSOMMERFELD E GREGERSEN N HINCKKNEIP C KRAWINKEL M SCHAUB J
Citation
R. Santer et al., SUDDEN UNEXPECTED INFANT DEATH AND MEDIUM -CHAIN ACYL-COA DEHYDROGENASE (MCAD) DEFICIENCY, Monatsschrift fur Kinderheilkunde, 143(8), 1995, pp. 749-753
Citations number
NO
Categorie Soggetti
Pediatrics
Journal title
Monatsschrift fur Kinderheilkunde → ACNP
ISSN journal
00269298
Volume
143
Issue
8
Year of publication
1995
Pages
749 - 753
Database
ISI
SICI code
0026-9298(1995)143:8<749:SUIDAM>2.0.ZU;2-U
Abstract
Sudden unexpected infant death is reported in a hospitalized 5-month-o ld infant, This patient developed mild rota virus gastroenteritis afte r he was admitted for rickets of vitamin D deficiency, Postmortally, m edium-chain acyl-CoA dehydrogenase (MCAD) deficiency was diagnosed by a characteristic pattern of acyl carnitines in plasma and the detectio n of the G985 mutation of the MCAD cDNA. Based on this unusual observa tion, we discuss the relation of this type of fatty acid oxidation dis order and sudden unexpected infant deaths.