Mevalonic aciduria

General Information (adopted from Orphanet):

Synonyms, Signs: MVA
MEVA
Complete mevalonate kinase deficiency
Number of Symptoms 56
OrphanetNr: 29
OMIM Id: 610377
ICD-10: E88.8
UMLs: C0342731
C1959626
MeSH: D054078
MedDRA:
Snomed: 124327008

Prevalence, inheritance and age of onset:

Prevalence: 30 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Metabolic disease with cataract
 -Rare eye disease
 -Rare genetic disease
Mevalonate kinase deficiency
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0012072) Aciduria 1 / 7739
2
 (HPO:0000325) Triangular face Very frequent [Orphanet] 91 / 7739
3
 (HPO:0000494) Downslanted palpebral fissures Very frequent [Orphanet] 328 / 7739
4
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
5
 (HPO:0000268) Dolichocephaly Very frequent [Orphanet] 144 / 7739
6
 (HPO:0000239) Large fontanelles Very frequent [Orphanet] 135 / 7739
7
 (HPO:0000639) Nystagmus 555 / 7739
8
 (HPO:0000518) Cataract Frequent [Orphanet] 454 / 7739
9
 (HPO:0000592) Blue sclerae Frequent [Orphanet] 85 / 7739
10
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
11
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
12
 (HPO:0000369) Low-set ears 372 / 7739
13
 (HPO:0002073) Progressive cerebellar ataxia 27 / 7739
14
 (HPO:0001263) Global developmental delay 853 / 7739
15
 (HPO:0002066) Gait ataxia Frequent [Orphanet] 327 / 7739
16
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
17
 (HPO:0002829) Arthralgia 79 / 7739
18
 (HPO:0002751) Kyphoscoliosis rare [HPO:skoehler] 131 / 7739
19
 (HPO:0002750) Delayed skeletal maturation Very frequent [Orphanet] 250 / 7739
20
 (HPO:0002014) Diarrhea 225 / 7739
21
 (HPO:0002013) Vomiting 191 / 7739
22
 (HPO:0002910) Elevated hepatic transaminases 158 / 7739
23
 (HPO:0006268) Fluctuating splenomegaly 1 / 7739
24
 (HPO:0006564) Fluctuating hepatomegaly 1 / 7739
25
 (HPO:0001744) Splenomegaly Very frequent [Orphanet] 337 / 7739
26
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
27
 (HPO:0001508) Failure to thrive 454 / 7739
28
 (HPO:0000988) Skin rash 98 / 7739
29
 (HPO:0012282) Morbilliform rash 1 / 7739
30
 (HPO:0001873) Thrombocytopenia 224 / 7739
31
 (HPO:0001974) Leukocytosis 33 / 7739
32
 (HPO:0004819) Normocytic hypoplastic anemia 1 / 7739
33
 (HPO:0000969) Edema 117 / 7739
34
 (HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
35
 (HPO:0002716) Lymphadenopathy 129 / 7739
36
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
37
 (HPO:0010547) Muscle flaccidity 466 / 7739
38
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
39
 (HPO:0001324) Muscle weakness 859 / 7739
40
 (HPO:0002059) Cerebral atrophy 171 / 7739
41
 (HPO:0002120) Cerebral cortical atrophy Very frequent [Orphanet] 187 / 7739
42
 (OMIM) Elevated IgD 1 / 7739
43
 (OMIM) Central cataract 2 / 7739
44
 (OMIM) Serum cholesterol low or normal 1 / 7739
45
 (HPO:0002335) Agenesis of cerebellar vermis 25 / 7739
46
 (OMIM) Nuclear cataract (in some patients) Retinal dystrophy (in some patients) 1 / 7739
47
 (OMIM) Undetectable rod and cone responses on electroretinography 1 / 7739
48
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
49
 (HPO:0001272) Cerebellar atrophy 197 / 7739
50
 (OMIM) Decreased ubiquinone-10 1 / 7739
51
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
52
 (OMIM) Elevated leukotriene E(4) 1 / 7739
53
 (OMIM) Elevated urinary mevalonic acid 1 / 7739
54
 (OMIM) Moderate atrophy of optic disc 1 / 7739
55
 (OMIM) Wide, irregular fontanels 1 / 7739
56
 (OMIM) Attenuation of retinal vessels 5 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Mevalonic aciduria, the first recognized defect in the biosynthesis of cholesterol and isoprenoids, is a consequence of a deficiency of mevalonate kinase (ATP:mevalonate 5-phosphotransferase; EC 2.7.1.36). Mevalonic acid accumulates because of failure of conversion to 5-phosphomevalonic acid, which ...
Clinical Description OMIM Hoffmann et al. (1986) delineated this inborn error of metabolism in a boy who came to their attention at age 2 years and in an unborn female sib. The boy presented with severe failure to thrive, developmental delay, ...
Molecular genetics OMIM For a complete discussion of the molecular genetics of mevalonic aciduria and other manifestations of mevalonate kinase deficiency, see the entry for the mevalonate kinase gene (MVK; 251170).

In 2 adolescent sibs with mevalonic aciduria, in ...