| Literature DB >> 32060250 |
Alec Reginald Errol Correa1, Neerja Gupta2, Narendra Bagri1, Pandiarajan Vignesh3, Seema Alam4, Seiji Yamaguchi5.
Abstract
Mevalonate kinase deficiency (MKD) is a rare autosomal recessive autoinflammatory disease caused by mutations in MVK. We report two siblings with MKD, presenting with recurrent febrile illnesses, detected to have compound heterozygous variants in MVK. MKD mimics common pediatric conditions and should be considered as a differential diagnosis.Entities:
Mesh：
Substances：
Year: 2020 PMID： 32060250
Source DB: PubMed Journal: Indian Pediatr ISSN： 0019-6061 Impact factor: 1.411