IDC10 code = E88.89
Genomic coordinate (human 12:109,573,272 MVK).
Cytoband (human 12q24.11 MVK).
Intraband %= 36.0% MVK
OMIM’ genes @ 12q24.11 = 34 genes.
ClinVar = 766 reported MVK variants.
Hyperbolic Umbilic Chromosome-12 is 1,200 genes.
Chromosome-12 Cytoband: WG2B2GC_CBG5B2G6 (12/29)
Here I present: “Mevalonic Aciduria”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (MVK)
INTRODUCTION.
Mevalonic aciduria is 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.
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), which is also caused by mutation in the MVK gene.
