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Results 1 - 6 of 6 for Sphingolipidosis
  1. SMPD1 gene 
    The SMPD1 gene provides instructions for making an enzyme called acid sphingomyelinase. This enzyme is found in lysosomes, which are small compartments in ...
    https://medlineplus.gov/genetics/gene/smpd1 - Genetics
  2. Krabbe disease 
    Krabbe disease (also called globoid cell leukodystrophy) is a severe neurological condition. It is part of a group of disorders known as leukodystrophies, which ...
    https://medlineplus.gov/genetics/condition/krabbe-disease - Genetics
  3. Metachromatic leukodystrophy 
    Metachromatic leukodystrophy is an inherited disorder characterized by the accumulation of fats called sulfatides in cells. This accumulation especially affects cells ...
    https://medlineplus.gov/.../condition/metachromatic-leukodystrophy - Genetics
  4. Gaucher disease 
    Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. The signs and symptoms of this condition vary widely among affected ...
    https://medlineplus.gov/genetics/condition/gaucher-disease -
  5. GBA gene 
    ... TM. Gaucher disease: understanding the molecular pathogenesis of sphingolipidoses. J Inherit Metab Dis. 2001;24 Suppl 2: ...
    https://medlineplus.gov/genetics/gene/gba - Genetics
  6. Tay-Sachs disease 
    ... A deficiency Hexosaminidase alpha-subunit deficiency (variant B) Sphingolipidosis, Tay-Sachs TSD Genetic Testing Registry: Tay-Sachs ...
    https://medlineplus.gov/genetics/condition/tay-sachs-disease - Genetics