Compound heterozygosity for abetalipoproteinaemia and familial hypobetalipoproteinaemia.
A 10 year old boy with abetalipoproteinaemia is reported. His mother and grandfather suffered from familial hypobetalipoproteinaemia, but his father had a normal lipoprotein profile. This is the first report of abetalipoproteinaemia resulting from compound heterozygosity for abetalipoproteinaemia and familial hypobetalipoproteinaemia.
Keidar
S
S
Lipid Research Centre, Rambam Medical Centre, Haifa, Israel.
Etzioni
A
A
Brook
J G
JG
Gershoni-Baruch
R
R
Aviram
M
M
D000012:Abetalipoproteinemia / Q000235:genetics*; D001054:Apolipoproteins A / Q000097:blood; D001055:Apolipoproteins B / Q000097:blood; D002648:Child; D002784:Cholesterol / Q000097:blood; D006579:Heterozygote; D006801:Humans; D006995:Hypobetalipoproteinemias / Q000235:genetics*; D007009:Hypolipoproteinemias / Q000235:genetics*; D008297:Male; D010375:Pedigree
D001054:Apolipoproteins A; D001055:Apolipoproteins B; D002784:Cholesterol