Information on MEVA
Basic details
Name: Mevalonic aciduria | Acronym: MEVA
Alt. names: Mevalonate kinase deficiency
Gene: MVK | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 1992
Last updated on: 2023-02-28 16:41:18 by
Description
In Mevalonic aciduria, diagnosis can be challenging, and effective treatment is available with specific agents (eg, steroids, leukotriene receptor antagonists); In Hyper-IgD syndrome, accurate diagnosis may be beneficial in order to avoid unnecessary surgery for suspected appendicitis/acute abdomen; Medical treatment (eg, corticosteroids, leukotriene receptor inhibitors) during the acute phase can be effective, as well as medical treatment in the non-acute phase. Refs. PMIDs: 6144826; 3012338; 8386351; 8190036; 8973873; 10369262; 10369261; 11313769; 11742050; 15149516; 15457465; 15536479; 16835861; 18409191; 20194276; 21399979; 21548022; 22159817; 22246419; 22271696; 22983302
Management
Description of management option has not been reviewed yet.
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
0 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical term | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Global developmental delay |
16 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Elevated urine mevalonic acid |
7 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Hepatosplenomegaly |
5 (83.3%) | 0 (0.0%) | 1 (16.7%) |
| 4 | Ataxia |
4 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Elevated circulating creatine kinase concentration |
4 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Anemia |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Attenuation of retinal blood vessels |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Cataract |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 9 | Cerebellar atrophy |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 10 | Failure to thrive in infancy |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 11 | Infantile onset |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 12 | Leukocytosis |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 13 | Recurrent infections |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 14 | short stature |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 15 | Diarrhea |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 16 | edema |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 17 | Elevated C-reactive protein |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 18 | elevated ESR |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 19 | Increased circulating IgD level |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 20 | Kyphoscoliosis |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 21 | Lymphadenopathy |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 22 | Microcephaly |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 23 | Nuclear cataract |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 24 | Skin rash |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 25 | Triangular face |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 26 | Underdeveloped nasal alae |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 27 | Vomiting |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 28 | Dysarthria |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 29 | Elevated hepatic transaminases |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 30 | Muscular hypotonia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 31 | Increased circulating lactate dehydrogenase concentration |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 32 | Optic disc pallor |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.