Cholesterol biosynthesis, peroxisomes and peroxisomal disorders: mevalonate kinase is not only deficient in Zellweger syndrome but also in rhizomelic chondrodysplasia punctata

J Inherit Metab Dis. 1998 Jun;21(3):309-12. doi: 10.1023/a:1005353129761.

Authors

R J Wanders¹, G J Romeijn

Affiliation

¹ University of Amsterdam, Academic Medical Centre, Department of Clinical Chemistry, The Netherlands.

PMID: 9686383
DOI: 10.1023/a:1005353129761

No abstract available

MeSH terms

Cells, Cultured
Cholesterol / biosynthesis*
Chondrodysplasia Punctata, Rhizomelic / enzymology*
Fibroblasts / enzymology
Humans
Microbodies
Peroxisomal Disorders / enzymology
Phosphotransferases (Alcohol Group Acceptor) / deficiency*
Zellweger Syndrome / enzymology*

Substances

Cholesterol
Phosphotransferases (Alcohol Group Acceptor)
mevalonate kinase