Results 1 - 7 of 7 for Acid lipase disease
  1. ... Genetic Testing Registry: Lysosomal acid lipase deficiency Lysosomal acid lipase deficiency Disease InfoSearch National Organization for Rare Disorders (NORD) ClinicalTrials. ...
  2. ... the LIPA gene have been found to cause lysosomal acid lipase deficiency. This inherited condition is characterized by the accumulation ... mutation, found in about half of individuals with lysosomal acid lipase deficiency that begins in childhood or later, disrupts the ...
  3. ... these changes impact the risk of developing heart disease. The LIPC gene mutations that cause this condition change single protein building blocks (amino acids) in the hepatic lipase enzyme. These mutations prevent the enzyme's release ...
  4. ... are separate disorders or part of the same disease spectrum. lipase member H lipase, member H LIPH_HUMAN LPD lipase-related protein LPDLR membrane-associated phosphatidic acid-selective phospholipase A1-alpha membrane-bound phosphatidic acid- ...
  5. ... in the PNPLA2 gene cause neutral lipid storage disease with myopathy. The ... molecules called fatty acids before they can be used for energy.PNPLA2 ...
  6. ... Triglyceride storage disease with impaired long-chain fatty acid oxidation ... R. Adipose triglyceride lipase-mediated lipolysis of cellular fat stores is activated ...
  7. ... amino acid) glycine with the amino acid glutamic acid at position 188 in the enzyme ... function, regulation, and role in disease. J Mol Med (Berl). 2002 Dec;80(12): ...