Molecular basis of classical mevalonic aciduria and the hyperimmunoglobulinaemia D and periodic fever syndrome: high frequency of 3 mutations in the mevalonate kinase gene

J Inherit Metab Dis. 2000 Jun;23(4):367-70. doi: 10.1023/a:1005687415434.

Authors

S M Houten¹, J Frenkel, W Kuis, R J Wanders, B T Poll-The, H R Waterham

Affiliation

¹ Department of Clinical Chemistry, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, The Netherlands.

PMID: 10896296
DOI: 10.1023/a:1005687415434

No abstract available

MeSH terms

Acidosis / complications
Acidosis / enzymology
Alleles
Familial Mediterranean Fever / complications
Familial Mediterranean Fever / enzymology*
Familial Mediterranean Fever / genetics
Gene Frequency
Humans
Hypergammaglobulinemia / complications
Hypergammaglobulinemia / enzymology*
Hypergammaglobulinemia / genetics
Immunoglobulin D / blood*
Mevalonic Acid / urine*
Phosphotransferases (Alcohol Group Acceptor) / deficiency
Phosphotransferases (Alcohol Group Acceptor) / genetics*
Point Mutation*

Substances

Immunoglobulin D
Phosphotransferases (Alcohol Group Acceptor)
mevalonate kinase
Mevalonic Acid