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IEMbase 0513: MVK-related Mevalonate kinase deficiency, severe

Scope

Field Value
IEMbase ID 513
Nosology 14.7.01.02
Gene MVK
External IDs OMIM:610377; ORPHA:309025
Generated mapping MAPPED; Mevalonate_Kinase_Deficiency.yaml#Mevalonic Aciduria
Candidate DisMech targets Mevalonate_Kinase_Deficiency.yaml#Mevalonic Aciduria
Review date 2026-07-07

IEMbase phenotype signal

IEMbase represents this as severe MVK-related mevalonate kinase deficiency, with alternate labels mevalonic aciduria and MKD. No treatments are listed.

The biochemical rows include very markedly increased urinary mevalonic acid, increased plasma leukotriene E4, normal-to-high creatine kinase and transaminases, low-to-normal cholesterol, low-to-normal coenzyme Q10, and normal-to-high immunoglobulin D. Clinical rows include ataxia, cataract, dolichocephaly, down-slanting eyelids, dysplastic ears, hypotonia, axial hypotonia, leukocytosis, maculopapular rash, triangular face, anemia, cerebellar hypoplasia, dysmorphic features, hepatosplenomegaly, psychomotor delay, respiratory failure, and thrombocytopenia.

DisMech phenotype coverage

Mevalonate_Kinase_Deficiency.yaml#Mevalonic Aciduria is the correct target. The local entry explicitly models the MVK spectrum, with the severe end named mevalonic aciduria. It includes reduced mevalonate kinase activity, deficient mevalonate/isoprenoid/cholesterol pathway output, defective protein prenylation, pyrin inflammasome activation, IL-1 beta inflammatory biology, and severe mevalonic-aciduria features such as developmental delay, cerebellar ataxia, dysmorphism, cataracts, and high early-childhood severity.

Concordance and completeness

Judgement: correct mapped subtype with high concordance.

IEMbase and DisMech agree on MVK/mevalonic aciduria identity, urinary mevalonic acid, the severe neurologic/dysmorphic end of the spectrum, cataracts, ataxia, hypotonia, hepatosplenomegaly, inflammatory features, and cytopenia prompts. DisMech is richer for mechanism and treatment framing, while IEMbase adds compact prompts for leukotriene E4, low-to-normal coenzyme Q10, CK/transaminase ranges, respiratory failure, and specific dysmorphic descriptors.

Curation actions

  • Keep this record mapped to Mevalonate_Kinase_Deficiency.yaml#Mevalonic Aciduria.
  • Consider leukotriene E4, CK/transaminases, coenzyme Q10, respiratory failure, and IEMbase's specific dysmorphic-feature list as future enrichment prompts.
  • Do not infer absent treatment from this JSON record; local MKD treatment coverage is stronger than the IEMbase row set.