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Results 1 - 6 of 6 for Lysosomal lipid storage disorder
  1. 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
  2. Mucolipidosis type IV 
    ... lack of functional mucolipin-1 impairs transport of lipids and proteins, ... lysosomal storage disorders. Two mutations in the MCOLN1 gene account for ...
    https://medlineplus.gov/genetics/condition/mucolipidosis-type-iv - Genetics
  3. Lysosomal acid lipase deficiency 
    ... on PubMed Zhang B, Porto AF. Cholesteryl ester storage disease: protean presentations of lysosomal acid lipase deficiency. J Pediatr Gastroenterol Nutr. 2013 Jun;56(6):682-5. doi: 10.1097/MPG.0b013e31828b36ac. Citation on PubMed
    https://medlineplus.gov/.../lysosomal-acid-lipase-deficiency - Genetics
  4. CLN3 gene 
    The CLN3 gene provides instructions for making a protein that is found in tissues throughout the body, yet its function is unclear. The CLN3 protein is found ...
    https://medlineplus.gov/genetics/gene/cln3 - Genetics
  5. Mucopolysaccharidosis type IV 
    ... to build up inside the lysosomes are called lysosomal storage disorders. In MPS IV, GAGs accumulate to toxic levels ...
    https://medlineplus.gov/.../condition/mucopolysaccharidosis-type-iv - Genetics
  6. LIPA gene 
    ... PubMed Central Zhang B, Porto AF. Cholesteryl ester storage disease: protean presentations of lysosomal acid lipase deficiency. J Pediatr Gastroenterol Nutr. 2013 ...
    https://medlineplus.gov/genetics/gene/lipa - Genetics