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An inborn error of metabolism characterized by faulty degradation of keratan sulfate with lysosomal accumulation and mucopolysaccharidosis, keratansulfaturia. Clinical features include short trunk dwarfism, dysostosis multiplex, progressive spinal deformity, short neck, pectus carinatum, genu valgum, pes planus, and odontoid hypoplasia with varying degrees of severity. Mental development is usually normal but progressive intellectual deterioration was reported in type B. Two types are recognized according to the enzymes involved: Type A: Synonyms: Morquio syndrome A galactosamine-4-sulfatase (GALNS) deficiency mucopolysaccharidosis (MPS) IV A This type is caused by galactosamine-6-sulfate sulfatase (EC 3.16.4) and is more severe than type B. It is marked by shortness and hyperextension of the neck causing the head to appear as if it were resting directly on the shoulders, short trunk, long extremities with excessive joint mobility, kyphosis or kyphoscoliosis, pectus carinatum, the sternum extending from clavicular junction and angling downward in midsection, spinal cord compression associated with atlantoaxial dislocation and thoracolumbar gibbus, protruding abdomen, and clouding of the cornea Type B: Synonyms: Morquio syndrome B Morquio-like syndrome beta-galactosidase deficiency mucopolysaccharidosis (MPS) IV B This type is caused by beta-galactosidase (EC 3.2.1.23) deficiency and is marked a milder phenotype consisting of dysostosis multiplex, pectus carinatum, odontoid hypoplasia, kyphosis, genua valga, platyspondyly, and corneal clouding.
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