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Hyper-IgD syndrome/mevalonate kinase deficiency: what is new?

Mulders-Manders CM, Simon A - Semin Immunopathol (2015)

Bottom Line: Mevalonate kinase deficiency or hyper-IgD syndrome is a hereditary autoinflammatory syndrome caused by mutations in the mevalonate kinase gene.In this review, we will discuss new findings in this disorder that have been published in the last 2 years.This includes new insights into pathophysiology, treatment, and the clinical phenotype linked to the genetic defect.

View Article: PubMed Central - PubMed

Affiliation: Department of Internal Medicine, Nijmegen Centre for Immunodeficiency and Autoinflammation (NCIA), Radboud University Medical Center, Nijmegen, The Netherlands.

ABSTRACT
Mevalonate kinase deficiency or hyper-IgD syndrome is a hereditary autoinflammatory syndrome caused by mutations in the mevalonate kinase gene. In this review, we will discuss new findings in this disorder that have been published in the last 2 years. This includes new insights into pathophysiology, treatment, and the clinical phenotype linked to the genetic defect.

No MeSH data available.


Related in: MedlinePlus

Mevalonate kinase catalyses the phosphorylation of mevalonic acid to 5-phosphomevalonate
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Related In: Results  -  Collection


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Fig1: Mevalonate kinase catalyses the phosphorylation of mevalonic acid to 5-phosphomevalonate

Mentions: MKD is caused by loss of function mutations in the mevalonate kinase gene (MVK) [2], which encodes for the protein mevalonate kinase. Mevalonate kinase is the second enzyme in the common pathway leading to both cholesterol and non-sterol isoprenoids and is located directly downstreams of HMG-CoA-reductase. Mevalonate kinase catalyses the phosphorylation of mevalonic acid to 5-phosphomevalonate (Fig. 1). Non-sterol isoprenoid end products are involved in the prenylation of proteins, where either a farnesyl group or a geranylgeranyl group is attached to a protein. This process is necessary for adequate protein function. Deficiency of mevalonate kinase leads to a shortage of intermediate compounds and end products of this pathway.Fig. 1


Hyper-IgD syndrome/mevalonate kinase deficiency: what is new?

Mulders-Manders CM, Simon A - Semin Immunopathol (2015)

Mevalonate kinase catalyses the phosphorylation of mevalonic acid to 5-phosphomevalonate
© Copyright Policy - OpenAccess
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC4491100&req=5

Fig1: Mevalonate kinase catalyses the phosphorylation of mevalonic acid to 5-phosphomevalonate
Mentions: MKD is caused by loss of function mutations in the mevalonate kinase gene (MVK) [2], which encodes for the protein mevalonate kinase. Mevalonate kinase is the second enzyme in the common pathway leading to both cholesterol and non-sterol isoprenoids and is located directly downstreams of HMG-CoA-reductase. Mevalonate kinase catalyses the phosphorylation of mevalonic acid to 5-phosphomevalonate (Fig. 1). Non-sterol isoprenoid end products are involved in the prenylation of proteins, where either a farnesyl group or a geranylgeranyl group is attached to a protein. This process is necessary for adequate protein function. Deficiency of mevalonate kinase leads to a shortage of intermediate compounds and end products of this pathway.Fig. 1

Bottom Line: Mevalonate kinase deficiency or hyper-IgD syndrome is a hereditary autoinflammatory syndrome caused by mutations in the mevalonate kinase gene.In this review, we will discuss new findings in this disorder that have been published in the last 2 years.This includes new insights into pathophysiology, treatment, and the clinical phenotype linked to the genetic defect.

View Article: PubMed Central - PubMed

Affiliation: Department of Internal Medicine, Nijmegen Centre for Immunodeficiency and Autoinflammation (NCIA), Radboud University Medical Center, Nijmegen, The Netherlands.

ABSTRACT
Mevalonate kinase deficiency or hyper-IgD syndrome is a hereditary autoinflammatory syndrome caused by mutations in the mevalonate kinase gene. In this review, we will discuss new findings in this disorder that have been published in the last 2 years. This includes new insights into pathophysiology, treatment, and the clinical phenotype linked to the genetic defect.

No MeSH data available.


Related in: MedlinePlus