Isolated neurological presentations of mevalonate kinase deficiency

Isolated neurological presentations of mevalonate kinase deficiency

Abstract Mevalonate kinase (MK) deficiency is a rare autosomal recessive metabolic disorder caused by pathogenic variants in the MVK gene with a broad phenotypic spectrum including autoinflammation, developmental delay and ataxia. Typically, neurological symptoms are considered to be part of the sev...

Full description

Bibliographic Details
Main Authors: Eva M. M. Hoytema van Konijnenburg, Esmeralda Oussoren, Joost Frenkel, Peter M. van Hasselt
Format: Article
Language:English
Published: Wiley 2023-01-01
Series:JIMD Reports
Subjects:
ataxia
autoinflammation
mevalonate kinase deficiency
mevalonic acid
psychomotor delay
Online Access:https://doi.org/10.1002/jmd2.12348

Internet

https://doi.org/10.1002/jmd2.12348

Similar Items