Cholesterol biosynthesis in Zellweger syndrome: normal activity of mevalonate kinase, mevalonate-5'-pyrophosphate decarboxylase and IPP-isomerase in patients' fibroblasts but deficient mevalonate kinase activity in liver

J Inherit Metab Dis. 1996;19(2):193-6. doi: 10.1007/BF01799427.
No abstract available

MeSH terms

  • Carbon-Carbon Double Bond Isomerases*
  • Carboxy-Lyases / metabolism
  • Cholesterol / biosynthesis*
  • Fibroblasts / enzymology*
  • Hemiterpenes
  • Humans
  • Isomerases / metabolism
  • Liver / enzymology*
  • Phosphotransferases (Alcohol Group Acceptor) / deficiency*
  • Phosphotransferases (Alcohol Group Acceptor) / metabolism
  • Zellweger Syndrome / enzymology*

Substances

  • Hemiterpenes
  • Cholesterol
  • Phosphotransferases (Alcohol Group Acceptor)
  • mevalonate kinase
  • Carboxy-Lyases
  • pyrophosphomevalonate decarboxylase
  • Isomerases
  • Carbon-Carbon Double Bond Isomerases
  • isopentenyldiphosphate delta-isomerase