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Article

A restrospective survey of patients's journey before the diagnosis of mevalonate kinase deficiency.

Joint bone spine - 1 Jul 2015

Berody Sandra, Galeotti Caroline, Koné-Paut Isabelle, Piram Maryam

Abstract excerpt

UNLABELLED: Mevalonate kinase deficiency (MKD) is an autosomic recessive auto-inflammatory disease caused by mutations of the MVK gene. MKD being a very rare disease, numerous misdiagnoses and medical referrals may precede the right diagnosis, amplifying the burden of the disease. OBJECTIVES: To evaluate the patient's medical referrals between the first symptom and the diagnosis of MKD and the diagnosis delay....

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Source

Identifiers

PMID: 25677409
DOI: 10.1016/j.jbspin.2014.12.011

Genes

MVK

Provenance

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