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Results 1 - 10 of 11 for Abnormality of lipid metabolism
  1. Chanarin-Dorfman syndrome 
    ... Jiang YJ, Schmuth M. 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. Majeed syndrome 
    ... a role in the processing of fats (lipid metabolism). However, no lipid abnormalities have been found with Majeed syndrome. Lipin-2 ...
    https://medlineplus.gov/genetics/condition/majeed-syndrome - Genetics
  3. Niemann-Pick disease 
    Niemann-Pick disease is a condition that affects many body systems. It has a wide range of symptoms that vary in severity. Niemann-Pick disease is divided into ...
    https://medlineplus.gov/genetics/condition/niemann-pick-disease - Genetics
  4. Chylomicron retention disease 
    ... E. Insights from human congenital disorders of intestinal lipid metabolism. J Lipid Res. 2015 May;56(5):945-62. doi: ...
    https://medlineplus.gov/.../condition/chylomicron-retention-disease - Genetics
  5. Boucher-Neuhäuser syndrome 
    ... Neuhäuser syndrome. Researchers speculate that impairment of lysophosphatidylcholine metabolism alters the balance of lipids in the cell membrane. This imbalance may damage ...
    https://medlineplus.gov/.../condition/boucher-neuhauser-syndrome - Genetics
  6. Methylmalonic acidemia with homocystinuria 
    ... in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities. Hum Mol Genet. 2017 Aug 1;26(15):2838-2849. doi: 10.1093/hmg/ddx157. Citation on PubMed Rutsch F, ... cblF defect of vitamin B(1)(2) metabolism. J Inherit Metab Dis. 2011 Feb;34(1): ...
    https://medlineplus.gov/...ethylmalonic-acidemia-with-homocystinuria - Genetics
  7. Sitosterolemia 
    ... rupture, leading to hemolytic anemia. Changes in the lipid composition of the membranes of red blood cells and platelets may account for the other blood abnormalities that sometimes occur in sitosterolemia. ABCG5 ABCG8 This ...
    https://medlineplus.gov/genetics/condition/sitosterolemia - Genetics
  8. Propionic acidemia 
    ... unable to process certain parts of proteins and lipids (fats) properly. It is classified as an organic ... progress to more serious medical problems, including heart abnormalities, seizures, coma, and possibly death.Less commonly, the ...
    https://medlineplus.gov/genetics/condition/propionic-acidemia - Genetics
  9. PNPLA6 gene 
    ... is involved in the breakdown of certain fats (lipids). Specifically, NTE breaks down a lipid called lysophosphatidylcholine, which is one of several compounds ...
    https://medlineplus.gov/genetics/gene/pnpla6 - Genetics
  10. MMADHC gene 
    ... CoA mutase. As a result, certain proteins and lipids are not broken down properly. This defect allows ... cblD type MMAD_HUMAN Tests of MMADHC PubMed METABOLISM OF COBALAMIN ASSOCIATED D; MMADHC NCBI Gene ClinVar ...
    https://medlineplus.gov/genetics/gene/mmadhc - Genetics
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