Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Mevalonic aciduria

Mevalonic aciduria is an autosomal recessive disorder caused by mutations of the MVK gene. The disease is characterized by failure to thrive, psychomotor retardation, ataxia, recurrent fever, hepatosplenomegaly, and central cataracts. Death occurs in early childhood.

Systematic

Mevalonate kinase-associated inflammatory diseases
Hyper-IgD syndrome
Mevalonic aciduria
MVK
Porokeratosis 3

References:

1.

Prietsch V et al. (2003) Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum.

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2.

Mandey SH et al. (2006) Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency.

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3.

Hoffmann GF et al. (1993) Clinical and biochemical phenotype in 11 patients with mevalonic aciduria.

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4.

Gibson KM et al. (1988) Mevalonate kinase deficiency in a child with cerebellar ataxia, hypotonia and mevalonic aciduria.

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5.

Hoffmann G et al. (1986) Mevalonic aciduria--an inborn error of cholesterol and nonsterol isoprene biosynthesis.

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6.

Berger R et al. (1985) Mevalonic aciduria: an inborn error of cholesterol biosynthesis?

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7.

Mancini J et al. () Mevalonic aciduria in 3 siblings: a new recognizable metabolic encephalopathy.

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8.

Hinson DD et al. (1998) Hematological abnormalities and cholestatic liver disease in two patients with mevalonate kinase deficiency.

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9.

OMIM.ORG article

Omim 610377 [^]
10.

Orphanet article

Orphanet ID 29 [^]
11.

Wikipedia article

Wikipedia EN (Mevalonate_kinase_deficiency) [^]
Update: April 29, 2019