Mevalonic Aciduria

External Ids:

OMIM 57 610377 Disease Ontology 12 DOID:0050452 MeSH 44 D054078 NCIt 50 C84890 SNOMED-CT 68 124327008 234538002 Orphanet 59 ORPHA29 MESH via Orphanet 45 D054078

UMLS via Orphanet 74 C0342731 C1959626 ICD10 via Orphanet 34 E88.8 MedGen 42 C1959626 KEGG 37 H00206 SNOMED-CT via HPO 69 258211005 276709006 271611007 72239002 253251006 95515009 246800008 128306009 193570009 247053007 204164000 563001 20741006 267038008 423666004 79654002 228156007 247578003 91138005 128613002 246545002 313307000 84757009 91175000 85102008 398151007 398152000 224958001 95646004 36440009 432788009 16294009 302215000 415116008 111583006 249497008 300359004 422400008 267060006 62315008 278849000 418143002 52522001 230233000 253175003 716997004 30746006 123983008 405773007 57676002 166603001 166643006 75183008 237836003 21806007 247470007 50495000 more UMLS 73 C0342731 C0398691 C1959626

NIH Rare Diseases : ⁵³ Mevalonic aciduria is the severe form of mevalonate kinase deficiency, a condition characterized by recurrent episodes of fever that typically begin during infancy. During these fever episodes, people with mevalonic aciduria may have an enlarged liver and spleen (hepatosplenomegaly), lymphadenopathy, abdominal pain, diarrhea, joint pain (arthralgia), and skin rashes. Additional ongoing issues include developmental delay, progressive ataxia, progressive problems with vision, an unusually small, elongated head, and failure to thrive. Mevalonic aciduria is caused by deficiency of mevalonate kinase, the first committed enzyme of cholesterol biosynthesis. This deficiency occurs as a result of inheritedmutations in the MVK gene. This condition is inherited in an autosomal recessive pattern. Treatment is challenging and remains mainly supportive.The less severe type of mevalonate kinase deficiency is called hyperimmunoglobulinemia D syndrome (HIDS). 

MalaCards based summary : Mevalonic Aciduria, also known as mevalonate kinase deficiency, is related to hyper-igd syndrome and mosaic variegated aneuploidy syndrome, and has symptoms including abdominal pain, arthralgia and diarrhea. An important gene associated with Mevalonic Aciduria is MVK (Mevalonate Kinase), and among its related pathways/superpathways are Terpenoid backbone biosynthesis and Metabolism. The drugs Antibodies and Antibodies, Monoclonal have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and spleen, and related phenotypes are intellectual disability and seizures

Genetics Home Reference : ²⁵ Mevalonate kinase deficiency is a condition characterized by recurrent episodes of fever, which typically begin during infancy. Each episode of fever lasts about 3 to 6 days, and the frequency of the episodes varies among affected individuals. In childhood the fevers seem to be more frequent, occurring as often as 25 times a year, but as the individual gets older the episodes occur less often.

OMIM : ⁵⁷ 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 is catalyzed by mevalonate kinase. Mevalonic acid is synthesized from 3-hydroxy-3-methylglutaryl-CoA, a reaction catalyzed by HMG-CoA reductase (142910). Mevalonic aciduria is characterized by dysmorphology, psychomotor retardation, progressive cerebellar ataxia, and recurrent febrile crises, usually manifesting in early infancy, accompanied by hepatosplenomegaly, lymphadenopathy, arthralgia, and skin rash. The febrile crises are similar to those observed in hyperimmunoglobulinemia D and to periodic fever syndrome (HIDS; 260920), which is also caused by mutation in the MVK gene (summary by Prietsch et al., 2003). (610377)

UniProtKB/Swiss-Prot : ⁷⁵ Mevalonic aciduria: Accumulation of mevalonic acid which causes a variety of symptoms such as psychomotor retardation, dysmorphic features, cataracts, hepatosplenomegaly, lymphadenopathy, anemia, hypotonia, myopathy, and ataxia.

Wikipedia : ⁷⁶ Mevalonate kinase deficiency, also called mevalonic aciduria and hyper immunoglobin D syndrome is an... more...

Clinical features from OMIM:

610377

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased free cholesterol	GR00340-A-2	8.8	HMGCR MMAB MVK

Search NIH Clinical Center for Mevalonic Aciduria

Search GEO for disease gene expression data for Mevalonic Aciduria.