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Defects in mavalonate kinase (MVK) are the cause of mevalonicaciduria. It is an accumulation of mevalonic acid which cause a variety of symptoms such as psychomotor retardation, dysmorphic features, cataracts, hepatosplenomegaly, lymphadenopathy, anemia, hypotonia, myopathy, and ataxia.
Alternative names
HIGD with periodic fever syndrome
Hyper-IgD syndrome
Mevalonicaciduria
Mevalonate kinase deficiency
Classification
- Periodic fever syndromes
Inheritance
Autosomal recessive
Cross references
Phenotypically related immunodeficiencies
IDR factfile for Familial Mediterranean Fever
IDR factfile for Tumor necrosis factor receptor-associated periodic syndrome
Incidence
Incidence is not known.