Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome
2006
Mevalonate Kinase Deficiencies: Understanding MVA and HIDS
Sample size: 210
publication
Evidence: moderate
Author Information
Author(s): Dorothea Haas, Georg F. Hoffmann
Primary Institution: Department of General Pediatrics, University Children's Hospital Heidelberg
Conclusion
Mevalonate kinase deficiencies lead to two distinct conditions, MVA and HIDS, with varying clinical presentations and no established treatment for MVA.
Supporting Evidence
- MVA is characterized by severe symptoms including psychomotor retardation and recurrent febrile crises.
- HIDS primarily presents with recurrent fever episodes and may lead to neurological abnormalities.
- Genetic mutations in the MVK gene are the common cause of both MVA and HIDS.
Takeaway
Some people have a problem with a part of their body that helps make cholesterol, which can make them very sick in different ways. There are no good treatments for one of these problems.
Limitations
The study does not provide established treatments for MVA and highlights the need for genetic counseling.
Participant Demographics
At least 30 patients with MVA and 180 patients with HIDS reported worldwide.
Digital Object Identifier (DOI)
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