Mevalonate kinase deficiency
ORPHA:309025· ICD-10 E88.8
Definition
A rare inborn error of metabolism characterized by a spectrum of presentation ranging from hyperimmunoglobulinemia D with periodic fever (HIDS) to mevalonic aciduria.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Not applicable
- Age of onset
- Infancy