Deficiency of mevalonate kinase

disorder

SNOMED 124327008CUI C0342731

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Treatments & Interventions

Canakinumab

substance

Research Evidence

Peer-reviewed studies linked via MeSH term "Mevalonate Kinase Deficiencies" from the MEDLINE/PubMed database.

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Mevalonate kinase deficiency: an updated clinical overview and revision of the SHARE recommendations.

[object Object], [object Object], [object Object] et al. · Front Immunol · 2024

PMID: 39600705Meta-AnalysisFull text (PMC)

Neurological manifestations in mevalonate kinase deficiency: A systematic review.

[object Object], [object Object], [object Object] et al. · Mol Genet Metab · 2022

PMID: 35525811Meta-Analysis

The 2021 EULAR/American College of Rheumatology Points to Consider for Diagnosis, Management and Monitoring of the Interleukin-1 Mediated Autoinflammatory Diseases: Cryopyrin-Associated Periodic Syndromes, Tumour Necrosis Factor Receptor-Associated Periodic Syndrome, Mevalonate Kinase Deficiency, and Deficiency of the Interleukin-1 Receptor Antagonist.

[object Object], [object Object], [object Object] et al. · Arthritis Rheumatol · 2022

PMID: 35621220Meta-AnalysisFull text (PMC)

Systematic literature review of efficacy/effectiveness and safety of current therapies for the treatment of cryopyrin-associated periodic syndrome, hyperimmunoglobulin D syndrome and tumour necrosis factor receptor-associated periodic syndrome.

[object Object], [object Object], [object Object] et al. · RMD Open · 2020

PMID: 32723831Meta-AnalysisFull text (PMC)

Recommendations for the management of autoinflammatory diseases.

[object Object], [object Object], [object Object] et al. · Ann Rheum Dis · 2015

PMID: 26109736Meta-Analysis

[Monogenic autoinflammatory uveitis].

[object Object], [object Object], [object Object] et al. · Rev Med Interne · 2025

PMID: 40140330Review

Tocilizumab for treating mevalonate kinase deficiency and TNF receptor-associated periodic syndrome: a case series and literature review.

[object Object], [object Object] · Pediatr Rheumatol Online J · 2024

PMID: 38183017ReviewFull text (PMC)

Inflammatory turmoil within: an exploration of autoinflammatory disease genetic underpinnings, clinical presentations, and therapeutic approaches.

[object Object], [object Object], [object Object] et al. · Adv Rheumatol · 2024

PMID: 39175060Review

Diagnostic and therapeutic algorithms for monogenic autoinflammatory diseases presenting with recurrent fevers among adults.

[object Object], [object Object], [object Object] et al. · Rheumatology (Oxford) · 2023

PMID: 36575989Review

Recent Insights in Pyrin Inflammasome Activation: Identifying Potential Novel Therapeutic Approaches in Pyrin-Associated Autoinflammatory Syndromes.

[object Object], [object Object], [object Object] et al. · J Clin Immunol · 2023

PMID: 38129719Review

Search all PubMed articles for Deficiency of mevalonate kinase

Research data from MEDLINE/PubMed

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Attenuation of retinal blood vessels

Always present (100%)HP:0007843

Decreased haemoglobin

Always present (100%)HP:0001903

Elevated circulating creatine phosphokinase

Always present (100%)HP:0003236

Elevated liver enzymes

Always present (100%)HP:0002910

Elevated urine mevalonate

Always present (100%)HP:0032638

Failure to thrive in first year of life

Always present (100%)HP:0001531

Increased lactate dehydrogenase level

Always present (100%)HP:0025435

Increased total leukocyte count

Always present (100%)HP:0001974

Infratentorial atrophy

Always present (100%)HP:0001272

Susceptibility to infection

Always present (100%)HP:0002719

Cerebral cortex atrophy

Very frequent (80-99%)HP:0002120

Decreased body height

Very frequent (80-99%)HP:0004322

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Down-slanting palpebral fissure

Very frequent (80-99%)HP:0000494

Hepatosplenomegaly

Very frequent (80-99%)HP:0001433

Inverted triangular face

Very frequent (80-99%)HP:0000325

Large spleen

Very frequent (80-99%)HP:0001744

Large, late-closing fontanelle

Very frequent (80-99%)HP:0000239

Narrow skull shape

Very frequent (80-99%)HP:0000268

Nonprogressive mental retardation

Very frequent (80-99%)HP:0001249

Peripheral hypotonia

Very frequent (80-99%)HP:0001252

Psychomotor development deficiency

Very frequent (80-99%)HP:0001263

Retarded ossification

Very frequent (80-99%)HP:0002750

Seizures

Very frequent (80-99%)HP:0001250

Ataxia

Frequent (30-79%)HP:0001251

Cataract

Frequent (30-79%)HP:0000518

Diarrhea

Frequent (30-79%)HP:0002014

Difficulty articulating speech

Frequent (30-79%)HP:0001260

Elevated CRP

Frequent (30-79%)HP:0011227

Elevated sedimentation rate

Frequent (30-79%)HP:0003565

Related Conditions

Mevalonic aciduria(child)

Hyper-IgD periodic fever syndrome(child)

Deficiency of transferase(parent)

Quick Facts

SNOMED CT: 124327008
UMLS CUI: C0342731
Fully Specified Name: Deficiency of mevalonate kinase (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30
Known Treatments: 1

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.