Mevalonate Kinase Deficiency as Cause of Periodic Fever in Two Siblings.

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.

journal_name

Indian Pediatr

journal_title

Indian pediatrics

authors

Correa ARE,Gupta N,Bagri N,Vignesh P,Alam S,Yamaguchi S

subject

Has Abstract

pub_date

2020-02-15 00:00:00

pages

180-181

issue

2

eissn

0019-6061

issn

0974-7559

journal_volume

57

pub_type

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