Related MeSH Hierarchy (9)
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Metabolism, Inborn Errors » Brain Diseases, Metabolic, Inborn » Mevalonate Kinase Deficiency
Diseases [C] » Nervous System Diseases [C10] » Central Nervous System Diseases » Brain Diseases » Brain Diseases, Metabolic » Brain Diseases, Metabolic, Inborn » Mevalonate Kinase Deficiency
Diseases [C] » Hemic and Lymphatic Diseases [C15] » Hematologic Diseases » Blood Protein Disorders » Hypergammaglobulinemia » Mevalonate Kinase Deficiency
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Hereditary Autoinflammatory Diseases » Mevalonate Kinase Deficiency
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Metabolism, Inborn Errors » Brain Diseases, Metabolic, Inborn » Mevalonate Kinase Deficiency
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Metabolism, Inborn Errors » Peroxisomal Disorders » Mevalonate Kinase Deficiency
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Brain Diseases, Metabolic » Brain Diseases, Metabolic, Inborn » Mevalonate Kinase Deficiency
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Metabolism, Inborn Errors » Peroxisomal Disorders » Mevalonate Kinase Deficiency
Diseases [C] » Immune System Diseases [C20] » Immunoproliferative Disorders » Hypergammaglobulinemia » Mevalonate Kinase Deficiency
Description
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. MeSH
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