Perinatal Onset Mevalonate Kinase Deficiency

2011 
Defects in mevalonate kinase, a critical rate-limiting enzyme in cholesterol and isoprene metabolism, have been associated with 2 clinical phenotypes: mevalonic aciduria, which presents in infancy or early childhood with growth failure, dysmorphic features, and neurologic disease; and hyperimmunoglobulinemia D and periodic fever syndrome, which usually presents outside the neonatal period as an autoinflammatory periodic fever syndrome. This report describes a kindred with 2 siblings affected by severe mevalonate kinase deficiency (mevalonic aciduria) with perinatal onset. Dysmorphic and central nervous system abnormalities, anemia, and cholestasis were prominent features in 1 sibling. Both cases were fatal, 1 in the immediate neonatal period and 1 in utero. The small number of cases of mevalonate kinase deficiency presenting in the perinatal period have typically been severely affected, with signs and symptoms of a severe multisystem disorder. Predominant features of perinatal onset mevalonate kinase defi...
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