Abstract
Mucopolysaccharidosis (MPS) comprises a group of conditions associated with an abnormality in glycoprotein or mucopolysaccharides metabolism. Types of MPS identified are MPS I-H (Hurler's syndrome, gargoylism), MPS II (Hunter's syndrome), MPS III (Sanfilippo's syndrome), MPS IV (Morquio-Brailsford syndrome), MPS I-S (Scheie's syndrome) and MPS VI (Maroteaux-Lamy syndrome). The Hunter type is inherited as an X-linked recessive; the others are autosomal recessive. Patients with MPS IV can usually be clinically distinguished from patients with other forms of MPS; their intelligence is unimpaired, in contrast with other forms of MPS. Husler coined the term dysostosis multiplex to describe the skeletal findings.
Highlights
Mucopolysaccharidosis (MPS) is a rare inherited biochemical disorder characterised by the accumulation of mucopolysaccharides in various body tissues owing to insufficient amounts of the enzyme galactosamine sulphate and galactosidase to break them down
Morquio’s syndrome is a genetic disorder caused by the lack of the enzyme responsible for the breakdown of the mucopolysaccharide keratin sulphate
The resulting build-up of keratin sulphate causes a specific pattern of abnormalities
Summary
Mucopolysaccharidosis (MPS) is a rare inherited biochemical disorder characterised by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues owing to insufficient amounts of the enzyme galactosamine sulphate (type A) and galactosidase (type B) to break them down. A deficiency of either enzyme leads to the accumulation of mucopolysaccharides in the body, abnormal skeletal development and additional symptoms. A family history of the syndrome raises the risk for the condition. It was first described, simultaneously and independently, in 1929, by Luis Morquio in Montevideo, Uruguay, and James Brailsford in Birmingham, England.[1,2] They both recognised the occurrence of corneal clouding, aortic valve disease and urinary excretion of keratan sulphate. Radiographic features include oval vertebral bodies with anterior beaking and unossified femoral heads with proximal femoral valgus deformities and broad, flat (wine-glass shape) ilia
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