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Article

Severe phenotypic spectrum of mevalonate kinase deficiency with minimal mevalonic aciduria.

Molecular genetics and metabolism - 1 Dec 2012

Prasad Chitra, Salvadori Marina I, Rupar C A

Abstract excerpt

Mevalonate kinase deficiency is a rare autosomal recessively inherited organic aciduria with a complex multi-systemic phenotype. We describe two deceased patients with clinically severe mevalonate kinase (MK) deficiency confirmed by MK mutation analysis. The phenotype in our patients ranged from neonatal hydrops in the first patient to severe failure to thrive, hepatosplenomegaly, recurrent febrile episodes and...

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PMID: 23146290
DOI: 10.1016/j.ymgme.2012.10.019

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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