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Results 1 - 10 of 21 for Inherited lipid metabolism disorder
  1. Chanarin-Dorfman syndrome 
    ... Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism. J Lipid Res. 2008 Apr;49(4):697- ...
    https://medlineplus.gov/genetics/condition/chanarin-dorfman-syndrome - Genetics
  2. Niemann-Pick disease 
    ... and C2. NPC1 NPC2 SMPD1 This condition is inherited in an autosomal recessive pattern, which means both ...
    https://medlineplus.gov/genetics/condition/niemann-pick-disease - Genetics
  3. Abetalipoproteinemia 
    ... AJ, van Bockxmeer FM, Burnett JR. Monogenic hypocholesterolaemic lipid disorders and apolipoprotein B metabolism. Crit Rev Clin Lab Sci. 2005;42(5- ...
    https://medlineplus.gov/genetics/condition/abetalipoproteinemia - Genetics
  4. Chylomicron retention disease 
    ... PubMed Central Levy E. Insights from human congenital disorders of intestinal lipid metabolism. J Lipid Res. 2015 May;56(5):945- ...
    https://medlineplus.gov/.../condition/chylomicron-retention-disease - Genetics
  5. Farber lipogranulomatosis 
    Farber lipogranulomatosis is a rare inherited condition involving the breakdown and use of fats in the body (a process known as lipid metabolism). In affected individuals, lipids ...
    https://medlineplus.gov/genetics/condition/farber-lipogranulomatosis - Genetics
  6. Tangier disease 
    Tangier disease is an inherited disorder characterized by significantly reduced levels of high-density lipoprotein (HDL) in the blood. HDL transports cholesterol and certain fats ...
    https://medlineplus.gov/genetics/condition/tangier-disease - Genetics
  7. Lysosomal acid lipase deficiency 
    Lysosomal acid lipase deficiency is an inherited condition characterized by problems with the breakdown and use of fats and cholesterol in the body (lipid metabolism). In affected individuals, harmful ...
    https://medlineplus.gov/.../lysosomal-acid-lipase-deficiency - Genetics
  8. Propionic acidemia 
    Propionic acidemia is an inherited disorder in which the body is unable to process certain parts of proteins and lipids (fats) properly. It is classified ... with propionic acidemia. PCCA PCCB This condition is inherited in an autosomal recessive pattern, which means both ...
    https://medlineplus.gov/genetics/condition/propionic-acidemia - Genetics
  9. Familial lipoprotein lipase deficiency 
    Familial lipoprotein lipase deficiency is an inherited condition that disrupts the normal breakdown of fats in the body, resulting in an increase of certain kinds of fats.People with ...
    https://medlineplus.gov/.../familial-lipoprotein-lipase-deficiency - Genetics
  10. Familial hypobetalipoproteinemia 
    ... AJ, van Bockxmeer FM, Burnett JR. Monogenic hypocholesterolaemic lipid disorders and apolipoprotein B metabolism. Crit Rev Clin Lab Sci. 2005;42(5- ...
    https://medlineplus.gov/.../familial-hypobetalipoproteinemia - Genetics
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