Maroteaux-Lamy syndrome

Mucopolysaccharidoses are a type of lysosomal storage disorders characterized by defect in the degradation of Mucopolysaccharides due to deficiency of specific lysosomal enzymes leading to their accumulation in various tissues. MPS -VI (Maroteaux-Lamy Syndrome) is an autosomal recessive syndrome due...

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Bibliographic Details
Published in:Indian journal of pediatrics 2004-10, Vol.71 (10), p.933-935
Main Authors: LAKHOTIA, Siddharth, SHARMA, Alok, SHRIVASTAVA, G. P, JAIN, S. K
Format: Article
Language:English
Subjects:
Abnormalities, Multiple
Arylsulfatases - deficiency
Biological and medical sciences
Carbohydrates (enzymatic deficiencies). Glycogenosis
Child
Diseases of the osteoarticular system
Dwarfism
Errors of metabolism
General aspects
Humans
Leukocytes - ultrastructure
Male
Malformations and congenital and or hereditary diseases involving bones. Joint deformations
Medical sciences
Metabolic diseases
Mucopolysaccharidosis VI - diagnosis
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Summary:Mucopolysaccharidoses are a type of lysosomal storage disorders characterized by defect in the degradation of Mucopolysaccharides due to deficiency of specific lysosomal enzymes leading to their accumulation in various tissues. MPS -VI (Maroteaux-Lamy Syndrome) is an autosomal recessive syndrome due to deficiency of enzyme Aryl- Sulfatase -B, and is characterized by characteristic facies, normal intelligence, Dysostosis multiplex, organomegaly, joint stiffness, corneal clouding and striking inclusions in peripheral blood leucocytes. We present an 8-year-old male child with MPS-VI syndrome, confirmed by enzyme assay.
ISSN:0019-5456
0973-7693
DOI:10.1007/BF02830840