ICD-11 definition : Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is
a severe form of familial hypobetalipoproteinemia (see this term) characterized by
permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol,
and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular
manifestations. Abetalipoproteinemia is inherited in a recessive manner and is a result
of mutations of two alleles of the MTTP gene (MTP; 4q24). Other severe early familial
hypobetalipoproteinemias are inherited in a codominant manner and are a result of
mutations of two alleles of the APOB gene (2p24-p23).;
Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is
a severe form of familial hypobetalipoproteinemia (see this term) characterized by
permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol,
and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular
manifestations. Abetalipoproteinemia is inherited in a recessive manner and is a result
of mutations of two alleles of the MTTP gene (MTP; 4q24). Other severe early familial
hypobetalipoproteinemias are inherited in a codominant manner and are a result of
mutations of two alleles of the APOB gene (2p24-p23).