Short-chain hydroxyacyl-coenzyme A dehydrogenase deficiency presenting as unexpected infant death: A family study

Authors
Treacy, EP Lambert, DM Barnes, R Boriack, RL Vockley, J O'Brien, LK Jones, PM Bennett, MJ
Citation
Ep. Treacy et al., Short-chain hydroxyacyl-coenzyme A dehydrogenase deficiency presenting as unexpected infant death: A family study, J PEDIAT, 137(2), 2000, pp. 257-259
Citations number
9
Categorie Soggetti
Pediatrics,"Medical Research General Topics
Journal title
JOURNAL OF PEDIATRICS
ISSN journal
00223476 → ACNP
Volume
137
Issue
2
Year of publication
2000
Pages
257 - 259
Database
ISI
SICI code
0022-3476(200008)137:2<257:SHADDP>2.0.ZU;2-5
Abstract
We describe a case of liver-specific short-chain hydroxyacyl-coenzyme A deh ydrogenase deficiency. Enzymatic confirmation of heterozygosity was shown i n family members, illustrating the recessive nature of this new disorder. H eterozygous carriers did not present with biochemical abnormalities when ch allenged by fasting.