Preferred Label : Mevalonic aciduria;
Symbol : MEVA;
CISMeF acronym : MEVA;
Type : Phenotype, molecular basis known;
Description : 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).;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the mevalonate kinase gene (MVK, 251170.0001);
Laboratory abnormalities : Elevated serum creatine kinase; Elevated transaminases; Serum cholesterol low or normal; Elevated leukotriene E(4); Decreased ubiquinone-10; Elevated urinary mevalonic acid;
Prefixed ID : #610377;
Origin ID : 610377;
UMLS CUI : C1959626;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
Genes related to phenotype
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)
Validated automatic mappings to NTBT