Catalog

Abetalipoproteinaemia

No MMS code

Link to WHO Definition

Abetalipoproteinaemia – http://id.who.int/icd/entity/1117838449

Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia (see this term) characterised 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 hypobetalipoproteinaemias are inherited in a codominant manner and are a result of mutations of two alleles of the APOB gene (2p24-p23).