Short-chain hydroxyacyl-coenzyme A dehydrogenase deficiency presenting as unexpected infant death: A family study.
We describe a case of liver-specific short-chain hydroxyacyl-coenzyme A dehydrogenase deficiency. Enzymatic confirmation of heterozygosity was shown in family members, illustrating the recessive nature of this new disorder. Heterozygous carriers did not present with biochemical abnormalities when challenged by fasting.
Treacy
E P
EP
Biochemical Genetics, Montreal Children's Hospital, Montreal, Quebec, Canada.
Lambert
D M
DM
Barnes
R
R
Boriack
R L
RL
Vockley
J
J
O'brien
L K
LK
Jones
P M
PM
Bennett
M J
MJ
D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000172:deficiency* / Q000235:genetics; D002675:Child, Preschool; D005260:Female; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008099:Liver / Q000201:enzymology / Q000473:pathology; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics; D013398:Sudden Infant Death / Q000175:diagnosis*
D015094:3-Hydroxyacyl CoA Dehydrogenases