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deficit mevalonátkinázy

Subject h.	deficit mevalonátkinázy
Subject h.	Mevalonate Kinase Deficiency
Entry terms	deficit mevalonát kinázy hyperimunoglobulinémia D nedostatok mevalonátkinázy acidúria mevalónová syndróm hyper-IgD horúčka periodická, holandský typ syndróm hyperimunoglobulinémie D a periodickej horúčky hyper IgD syndróm periodickej horúčky
English X references	Hyperimmunoglobulinemia D Mevalonicaciduria
Scope note in English	Autosomal recessive disorder caused by mutations in the mevalonate kinase gene. Because of the mutations cholesterol biosynthesis is disrupted and MEVALONIC ACID accumulates. It is characterized by a range of symptoms, including dysmorphic FACIES, psychomotor retardation, CATARACT, hepatosplenomegaly, CEREBELLAR ATAXIA, elevated IMMUNOGLOBULIN D, and recurrent febrile crises with FEVER; LYMPHADENOPATHY; ARTHRALGIA; EDEMA; and rash.
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Number of the records: 1