Concept information
Nutritional and Metabolic Diseases
Metabolic Diseases
Metabolism, Inborn Errors
Lysosomal Storage Diseases
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Lysosomal Storage Diseases
Preferred term
Mucopolysaccharidoses
Type
-
Topical Descriptor
Narrower concepts
Entry terms
- Mucopolysaccharidosis
Note
- lysosomal storage dis; types I through VII except V are available as main headings: V = MUCOPOLYSACCHARIDOSIS V see MUCOPOLYSACCHARIDOSIS I; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES
Scope note
- Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in the degradation of glycosaminoglycans (mucopolysaccharides). The diseases are progressive and often display a wide spectrum of clinical severity within one enzyme deficiency.
History note
- 92; was MUCOPOLYSACCHARIDOSIS 1974-91
In other languages
-
Finnish
-
mucopolysaccharidosis
-
mucopolysaccharidosis non specificata
-
mukopolysakkaridoosi
-
määrittämätön mukopolysakkaridoosi
-
ospecificerad mukopolysackaridos
-
Swedish
-
MPS-sjukdomar
-
Mukopolysackaridossjukdomar
URI
http://www.yso.fi/onto/mesh/D009083
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