Mevalonic aciduria is an autosomal recessive disorder caused by
deficiency of mevalonate kinase and characterized by recurrent febrile
crisis, ophthalmic and neurological manifestations. We report two
brothers with mevalonic aciduria characterized clinically by severe
failure to thrive, psychomotor retardation, dysmorphic features, retinitis
pigmentosa and hypoplastic genitalia. Recurrent episodes of fever, a
characteristic feature of mevalonic aciduria due to deficiency of
mevalonate kinase enzyme was absent. Both patients excreted moderate
amounts of mevalonic acid. Molecular analysis of MVK gene showed no
abnormalities and plasma 7-dehydrocholesterol and serum
immunoglobulin D were normal. This phenotype-genotype association
has not been described in previous reports and future molecular genetic
studies are required to know the full spectrum of disorders of the
mevalonate pathway.

Title

An - Najah Univ. J. Res

Publisher

An-Najah National University

Publisher Country

Palestine

Publication Type

Both (Printed and Online)

Volume

30

Year

2015

Pages

10