1.
Indian Pediatr
;
2020 Feb; 57(2): 180-181
Artículo
| IMSEAR
| ID: sea-199488
RESUMEN
Mevalonate kinase deficiency (MKD) is a rare autosomalrecessive autoinflammatory disease caused by mutations inMVK. We report two siblings with MKD, presenting withrecurrent febrile illnesses, detected to have compoundheterozygous variants in MVK. MKD mimics common pediatricconditions and should be considered as a differential diagnosis.