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Results 1 - 10 of 54 for Lipids
  1. Neutral lipid storage disease with myopathy 
    Neutral lipid storage disease with myopathy is a condition in which fats (lipids) are stored abnormally in organs and tissues throughout the body. People with ...
    https://medlineplus.gov/...utral-lipid-storage-disease-with-myopathy - Genetics
  2. Chanarin-Dorfman syndrome 
    ... Dorfman syndrome is a condition in which fats (lipids) build up in the body. Affected individuals have ... syndrome Ichthyosiform Erythroderma with Leukocyte Vacuolation Ichthyotic neutral lipid storage disease Neutral lipid storage disease with ichthyosis ...
    https://medlineplus.gov/genetics/condition/chanarin-dorfman-syndrome - Genetics
  3. Niemann-Pick disease 
    ... is responsible for the conversion of a fat (lipid) called sphingomyelin into another type of lipid called ceramide. Mutations in SMPD1 lead to a ... these genes are involved in the movement of lipids within cells. Mutations in these genes lead to ...
    https://medlineplus.gov/genetics/condition/niemann-pick-disease - Genetics
  4. Lysosomal acid lipase deficiency 
    ... use of fats and cholesterol in the body (lipid metabolism). In affected individuals, harmful amounts of fats (lipids) accumulate in cells and tissues throughout the body, ...
    https://medlineplus.gov/.../lysosomal-acid-lipase-deficiency - Genetics
  5. Cerebrotendinous xanthomatosis 
    ... a disorder characterized by abnormal storage of fats (lipids) in many areas of the body. People with this disorder cannot break down certain lipids effectively, specifically different forms of cholesterol, so these ...
    https://medlineplus.gov/.../condition/cerebrotendinous-xanthomatosis - Genetics
  6. Sitosterolemia 
    Sitosterolemia is a condition in which fatty substances (lipids) from vegetable oils, nuts, and other plant-based foods accumulate in the blood and tissues. These lipids are called plant sterols (or phytosterols). Sitosterol is ...
    https://medlineplus.gov/genetics/condition/sitosterolemia - Genetics
  7. Farber lipogranulomatosis 
    ... fats in the body (a process known as lipid metabolism). In affected individuals, lipids accumulate abnormally in cells and tissues throughout the ... spleen, and immune system tissues due to massive lipid deposits. Lipid deposits may also occur in the ...
    https://medlineplus.gov/genetics/condition/farber-lipogranulomatosis - Genetics
  8. Hepatic lipase deficiency 
    ... the body's ability to break down fats (lipids). People with this disorder have increased amounts of ... It is unclear what effect this change in lipid levels has on people with hepatic lipase deficiency. ...
    https://medlineplus.gov/genetics/condition/hepatic-lipase-deficiency - Genetics
  9. Bietti crystalline dystrophy 
    ... yellow or white crystal-like deposits of fatty (lipid) compounds accumulate in the light-sensitive tissue that ... step process called fatty acid oxidation in which lipids are broken down and converted into energy, but ...
    https://medlineplus.gov/.../condition/bietti-crystalline-dystrophy - Genetics
  10. Methylmalonic acidemia 
    ... the body from breaking down proteins and fats (lipids) properly. The effects of methylmalonic acidemia, which usually ... down several protein building blocks (amino acids), certain lipids, and cholesterol. Variants in the MMUT gene alter ...
    https://medlineplus.gov/genetics/condition/methylmalonic-acidemia - Genetics
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