Bassen-kornzweig syndromeOther Metabolites Mapped to 'Abetalipoproteinemia'HMDB0004844 (Ganglioside GM3 (d18:1/16:0)) HMDB0004877 (Trihexosylceramide (d18:1/12:0)) HMDB0004886 (Trihexosylceramide (d18:1/24:0)) HMDB0004884 (Trihexosylceramide (d18:1/26:1(17Z))) HMDB0004882 (Trihexosylceramide (d18:1/22:0)) HMDB0004880 (Trihexosylceramide (d18:1/18:0)) HMDB0004866 (Lactosylceramide (d18:1/12:0)) HMDB0004958 (Tetrahexosylceramide (d18:1/12:0)) HMDB0000140 (Glucosylceramide)
- HMDB0004866 (Lactosylceramide (d18:1/12:0))
- A hypolipoproteinemia that is characterized by an inablility to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has physical basis in an autosomal recessive disorder of lipid metabolism that has material basis in mutation in the microsomal triglyceride transfer protein that catalyzes the transport of lipids (triglycerides; cholesterol esters; phospholipids) and is required in the secretion of beta-lipoproteins (low density lipoproteins or ldl). (do).
- Parent Term
- Health condition
- Parent Definition
- A health effect that consists on short or long-term disease, condition, disorder, syndrome or constant abnormality.