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Mevalonic aciduria in 12 unrelated patients with hygerimmunoglobulinaemia D and periodic fever syndrome

Poll-The, B. T. ; Frenkel, J. ; Houten, S. M. ; Kuis, W. ; Duran, M. ; De Koning, T. J. LU ; Dorland, L. ; De Barse, M. M.J. ; Romeijn, G. J. and Wanders, R. J.A. , et al. (2000) In Journal of Inherited Metabolic Disease 23(4). p.363-366
Abstract

Mevalonic aciduria is an inborn error of cholesterol and nonsterol isoprene biosynthesis due to mevalonate kinase deficiency (MKD; McKusick 251170). Urinary excretion of mevalonate is massively increased. Clinical manifestations include psychomotor retardation, hypotonia, dysmorphic features, failure to thrive, cataracts and hepatosplenomegaly. In addition to the multisystemic symptoms, patients present recurrent febrile attacks accompanied by adenopathy, arthralgias, rash and diarrhoea. These recurrent episodes of unexplained high fever with the associated features are also a characteristic finding of hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS), a relatively benign condition in which elevated immunoglobulin D (IgD)... (More)

Mevalonic aciduria is an inborn error of cholesterol and nonsterol isoprene biosynthesis due to mevalonate kinase deficiency (MKD; McKusick 251170). Urinary excretion of mevalonate is massively increased. Clinical manifestations include psychomotor retardation, hypotonia, dysmorphic features, failure to thrive, cataracts and hepatosplenomegaly. In addition to the multisystemic symptoms, patients present recurrent febrile attacks accompanied by adenopathy, arthralgias, rash and diarrhoea. These recurrent episodes of unexplained high fever with the associated features are also a characteristic finding of hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS), a relatively benign condition in which elevated immunoglobulin D (IgD) itself appears not to be causative. The febrile episodes in HIDS have an average duration of 24 h to 7 days, varying frequency, and a tendency to decrease in both numbers and severity of the attacks with age. We report 12 HIDS patients in whom a minimally increased mevalonate excretion during febrile episodes appeared to be related to mevalonate kinase (MK) deficiency resulting from mutations in the gene encoding mevalonate kinase.

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publishing date
type
Contribution to journal
publication status
published
subject
in
Journal of Inherited Metabolic Disease
volume
23
issue
4
pages
4 pages
publisher
Springer
external identifiers
  • scopus:0034091542
  • pmid:10896295
ISSN
0141-8955
DOI
10.1023/A:1005635431364
language
English
LU publication?
no
id
31fb9708-9b40-4100-8e0f-81da73aaacc3
date added to LUP
2020-03-03 19:14:03
date last changed
2024-05-01 07:28:59
@article{31fb9708-9b40-4100-8e0f-81da73aaacc3,
  abstract     = {{<p>Mevalonic aciduria is an inborn error of cholesterol and nonsterol isoprene biosynthesis due to mevalonate kinase deficiency (MKD; McKusick 251170). Urinary excretion of mevalonate is massively increased. Clinical manifestations include psychomotor retardation, hypotonia, dysmorphic features, failure to thrive, cataracts and hepatosplenomegaly. In addition to the multisystemic symptoms, patients present recurrent febrile attacks accompanied by adenopathy, arthralgias, rash and diarrhoea. These recurrent episodes of unexplained high fever with the associated features are also a characteristic finding of hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS), a relatively benign condition in which elevated immunoglobulin D (IgD) itself appears not to be causative. The febrile episodes in HIDS have an average duration of 24 h to 7 days, varying frequency, and a tendency to decrease in both numbers and severity of the attacks with age. We report 12 HIDS patients in whom a minimally increased mevalonate excretion during febrile episodes appeared to be related to mevalonate kinase (MK) deficiency resulting from mutations in the gene encoding mevalonate kinase.</p>}},
  author       = {{Poll-The, B. T. and Frenkel, J. and Houten, S. M. and Kuis, W. and Duran, M. and De Koning, T. J. and Dorland, L. and De Barse, M. M.J. and Romeijn, G. J. and Wanders, R. J.A. and Waterham, H. R.}},
  issn         = {{0141-8955}},
  language     = {{eng}},
  month        = {{06}},
  number       = {{4}},
  pages        = {{363--366}},
  publisher    = {{Springer}},
  series       = {{Journal of Inherited Metabolic Disease}},
  title        = {{Mevalonic aciduria in 12 unrelated patients with hygerimmunoglobulinaemia D and periodic fever syndrome}},
  url          = {{http://dx.doi.org/10.1023/A:1005635431364}},
  doi          = {{10.1023/A:1005635431364}},
  volume       = {{23}},
  year         = {{2000}},
}