Related MeSH Hierarchy (9)
Diseases [C] » Nervous System Diseases [C10] » Central Nervous System Diseases » Brain Diseases » Brain Diseases, Metabolic » Brain Diseases, Metabolic, Inborn » Lysosomal Storage Diseases, Nervous System » Mucolipidoses
Diseases [C] » Musculoskeletal Diseases [C05] » Bone Diseases » Bone Diseases, Metabolic » Mucolipidoses
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Metabolism, Inborn Errors » Brain Diseases, Metabolic, Inborn » Lysosomal Storage Diseases, Nervous System » Mucolipidoses
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Metabolism, Inborn Errors » Carbohydrate Metabolism, Inborn Errors » Mucolipidoses
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Metabolism, Inborn Errors » Lysosomal Storage Diseases » Lysosomal Storage Diseases, Nervous System » Mucolipidoses
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Brain Diseases, Metabolic » Brain Diseases, Metabolic, Inborn » Lysosomal Storage Diseases, Nervous System » Mucolipidoses
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Metabolism, Inborn Errors » Brain Diseases, Metabolic, Inborn » Lysosomal Storage Diseases, Nervous System » Mucolipidoses
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Metabolism, Inborn Errors » Carbohydrate Metabolism, Inborn Errors » Mucolipidoses
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Metabolism, Inborn Errors » Lysosomal Storage Diseases » Lysosomal Storage Diseases, Nervous System » Mucolipidoses
Description
A group of inherited metabolic diseases characterized by the accumulation of excessive amounts of acid mucopolysaccharides, sphingolipids, and/or glycolipids in visceral and mesenchymal cells. Abnormal amounts of sphingolipids or glycolipids are present in neural tissue. INTELLECTUAL DISABILITY and skeletal changes, most notably dysostosis multiplex, occur frequently. (From Joynt, Clinical Neurology, 1992, Ch56, pp36-7) MeSH
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Organization Involved with Phase 2 Indications (1)
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UMLS Data
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