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Abetalipoproteinemia
rareAbetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia 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.
- Identifiers
- MONDO:0008692 OMIM:200100Orphanet:14
- Causal genes
- MTTP
- Part of
- Autosomal recessive metabolic cerebellar ataxiaFamilial hemolytic anemiaHereditary peripheral neuropathyHypobetalipoproteinemiaIntestinal disorder
- Also known as
- abetalipoproteinemia neuropathy · ABL · apolipoprotein B deficiency · Bassen Kornzweig syndrome · Bassen-Kornzweig disease
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