Mucopolysaccharidosis

Introduction: Mucopolysaccharidosis

Description of Mucopolysaccharidosis

Mucopolysaccharidosis (medical condition): A lysosomal storage disorder that is caused by a deficiency of the ability to metabolise glycosaminoglycans.

See also:

Mucopolysaccharidoses:
  »Introduction: Mucopolysaccharidoses
  »Symptoms of Mucopolysaccharidoses
  »Treatments for Mucopolysaccharidoses

Mucopolysaccharidosis: , pl. mucopolysaccharidoses [MIM*252700] Any of a group of lysosomal storage diseases that have in common a disorder in metabolism of mucopolysaccharides, as evidenced by excretion of various mucopolysaccharides in urine and infiltration of these substances into connective tissue, with resulting various defects of bone, cartilage, connective tissue, and other organs.
Source: Stedman's Medical Spellchecker, © 2006 Lippincott Williams & Wilkins. All rights reserved.

Mucopolysaccharidosis: any of a group of genetic disorders involving a defect in the metabolism of mucopolysaccharides resulting in greater than normal levels of mucopolysaccharides in tissues.
Source: WordNet 2.1

Mucopolysaccharidosis: any of a group of lysosomal storage diseases resulting from defects in degradation of glycosaminoglycans, which are excreted in urine and accumulate in tissue.
Source: CRISP

Mucopolysaccharidosis: Rare Disease

Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Mucopolysaccharidosis is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Mucopolysaccharidosis, or a subtype of Mucopolysaccharidosis, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Mucopolysaccharidosis as a Disease

Mucopolysaccharidosis: Another name for Mucopolysaccharidoses (or close medical condition association).
  »Introduction: Mucopolysaccharidoses
  »Symptoms of Mucopolysaccharidoses
  »Treatments for Mucopolysaccharidoses

Symptoms of Mucopolysaccharidosis (Mucopolysaccharidoses)

Some of the symptoms of Mucopolysaccharidosis incude:

• Macroglossia
• Short neck
• Abnormal head shape
• Deformities of joints
• Increased abdominal girth

See full list of 45 symptoms of Mucopolysaccharidosis (Mucopolysaccharidoses)

Treatments for Mucopolysaccharidosis (Mucopolysaccharidoses)

Treatments for Mucopolysaccharidosis (Mucopolysaccharidoses) include:

• Symptomatic and supportive
• Bone marrow transplants

Read more about treatments for Mucopolysaccharidosis

Treatment of Mucopolysaccharidosis: For more treatment information about Mucopolysaccharidosis, see treatment of Mucopolysaccharidoses (Mucopolysaccharidosis)

Mucopolysaccharidosis: Article Excerpts about Mucopolysaccharidoses

Mucopolysaccharidoses consist of a group of inherited metabolic disorders caused by a deficiency of the specific lysosomal enzymes needed to break down mucopolysaccharides. Mucopolysaccharides are long chains of sugar molecules used to build connective tissues and organs in the body. When mutations occur in the genes for the enzymes involved in the normal turnover of mucopolysaccharides, excess amounts of them are stored in the body, causing progressive damage and, in most cases, eventual death. (Source: excerpt from NINDS Mucopolysaccharidoses Information Page: NINDS)

Mucopolysaccharidoses consist of a group of inherited metabolic disorders caused by a deficiency of the specific lysosomal enzymes needed to break down mucopolysaccharides. Mucopolysaccharides are long chains of sugar molecules used to build connective tissues and organs in the body. When mutations occur in the genes for the enzymes involved in the normal turnover of mucopolysaccharides, excess amounts of them are stored in the body, causing progressive damage and, in most cases, eventual death. (Source: excerpt from NINDS Mucopolysaccharidoses Information Page: NINDS)

Mucopolysaccharidosis: Related Disease Topics

These medical disease topics may be related to Mucopolysaccharidosis:

• metabolic disorders
• lysosomal storage disease
• carpel tunnel syndrome
• glaucoma
• dwarfism
• mucolipidosis
• bone dysplasia

Terms associated with Mucopolysaccharidosis:

Terms Similar to Mucopolysaccharidosis:

• MPS

Source - NIH

More specific terms for Mucopolysaccharidosis:

• mucopolysaccharidosis type I
• mucopolysaccharidosis type II
• mucopolysaccharidosis type III
• mucopolysaccharidosis type IV
• mucopolysaccharidosis type VI

Source - CRISP

• Hurler's syndrome
• Hurler's disease
• gargoylism
• dysostosis multiplex
• lipochondrodystrophy

Source - WordNet 2.1

Broader terms for Mucopolysaccharidosis

• inborn lysosomal enzyme disorder

Source - CRISP

• genetic disease
• genetic disorder
• genetic abnormality
• genetic defect
• congenital disease
• inherited disease
• inherited disorder
• hereditary disease
• hereditary condition

Source - WordNet 2.1

The term Mucopolysaccharidosis can be used for:

• mucopolysaccharidosis type VII

Source: CRISP

Hierarchical classifications of Mucopolysaccharidosis

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

WordNet 2.1

• congenital disease,genetic abnormality,genetic defect,genetic disease,genetic disorder,hereditary condition,hereditary disease,inherited disease,inherited disorder
• disease
• illness,malady,sickness,unwellness
• health problem,ill health,unhealthiness
• pathological state
• condition,status
• state

Source: WordNet 2.1

Disease Ontology - OBO (Open Biomedical Ontologies)

• Other and unspecified disorders of metabolism
• OTHER METABOLIC AND IMMUNITY DISORDERS
• ENDOCRINE, NUTRITIONAL AND METABOLIC DISEASES, AND IMMUNITY DISORDERS
• DISEASES AND INJURIES
• Disease Ontology V2.1 2005

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Medical dictionaries:

• Medical dictionary,
• Medical Acronymns/Abbreviations

More Medical Dictionary Topics

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