Mucolipidoses

Introduction: Mucolipidoses

Description of Mucolipidoses

Mucolipidoses (medical condition): A group of inherited metabolic disorders involving the accumulation of carbohydrates (glycosaminoglycans) and lipids within the tissues of the body due to a deficiencies or abnormal action of various lysosomal enzymes. This abnormal accumulation of carbohydrates and lipids within cells causes them to be damaged which often results in symptoms such as mental retardation and skeletal deformities. Symptoms may become apparent at birth or during childhood or adolescence. Premature death can occur in severe cases. There is a vast array of symptoms that can occur depending on the specific disorder involved.

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Mucolipidoses:
  »Introduction: Mucolipidoses
  »Symptoms of Mucolipidoses

Mucolipidoses: 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. Mental retardation and skeletal changes, most notably dysostosis multiplex, occur frequently. (From Joynt, Clinical Neurology, 1992, Ch56, pp36-7).
Source: MeSH 2007

Mucolipidoses as a Disease

Mucolipidoses (medical condition): See Mucolipidoses (disease information).
  »Introduction: Mucolipidoses
  »Symptoms of Mucolipidoses

More information on medical condition: Mucolipidoses:

• Information about Mucolipidoses
• Basic Summary for Mucolipidoses
• Symptoms of Mucolipidoses
• Complications of Mucolipidoses

Terms associated with Mucolipidoses:

Terms Similar to Mucolipidoses:

• Cherry Red Spot Myoclonus Syndrome
• Ganglioside Sialidase Deficiency Disease
• I-Cell Disease
• Lipomucopolysaccharidosis
• Mucolipidosis
• Myoclonus Cherry Red Spot Syndrome
• Pseudo-Hurler Polydystrophy
• Sialidosis

Source - MeSH 2007

Broader terms for Mucolipidoses

• Bone Diseases, Metabolic
• Lysosomal Storage Diseases, Nervous System
• Carbohydrate Metabolism, Inborn Errors

Source - MeSH 2007

Hierarchical classifications of Mucolipidoses

The following list attempts to classify Mucolipidoses into categories where each line is subset of the next.

MeSH 2007 Hierarchy:

• Musculoskeletal Diseases
  • Bone Diseases
    • Bone Diseases, Metabolic
      • Mucolipidoses

MeSH 2007 Hierarchy

• Nervous System Diseases
  • Central Nervous System Diseases
    • Brain Diseases
      • Brain Diseases, Metabolic
        • Brain Diseases, Metabolic, Inborn
          • Lysosomal Storage Diseases, Nervous System
            • Mucolipidoses

MeSH 2007 Hierarchy

• Congenital, Hereditary, and Neonatal Diseases and Abnormalities
  • Genetic Diseases, Inborn
    • Metabolism, Inborn Errors
      • Brain Diseases, Metabolic, Inborn
        • Lysosomal Storage Diseases, Nervous System
          • Mucolipidoses

MeSH 2007 Hierarchy

• Congenital, Hereditary, and Neonatal Diseases and Abnormalities
  • Genetic Diseases, Inborn
    • Metabolism, Inborn Errors
      • Carbohydrate Metabolism, Inborn Errors
        • Mucolipidoses

MeSH 2007 Hierarchy

• Congenital, Hereditary, and Neonatal Diseases and Abnormalities
  • Genetic Diseases, Inborn
    • Metabolism, Inborn Errors
      • Lysosomal Storage Diseases
        • Lysosomal Storage Diseases, Nervous System
          • Mucolipidoses

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