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Morquio disease, type B

Morquio disease, type B Causes

Type B Morquio syndrome is caused by a deficiency of the enzyme beta-galactosidase.

Morquio disease, type B Definition

Also referred to as mucopolysaccharidosis IV or Morquio, the disease is known to be an autosomal recessive mucopolysaccharide disease that is more often than not inherited. It is also considered a relatively unusual case of dwarfism with serious consequences. This happens when the body cannot process certain types of mucopplysaccharides, they just build up or are eliminated causing a range of symptoms. The type A form is a deficiency of the enzyme N-acetylgalactosamine-6-sulfate sulfatase.

Morquio disease, type B Diagnosis

Physical examination may expose abnormal curvature of the spine or kyphoscoliosis, cloudy cornea, heart murmur, inquinal hernia, liver enlargement, loss of nerve function below the neck and short stature. Other tests may comprise of blood culture, echocardiogram, genetic testing, hearing test, slit-lamp eye exam, skin fibrolast culture and x-rays of the long bones, ribs and spine.

Morquio disease, type B Symptoms and Signs

Morquio syndrome has an assortment of symptoms. Among them are abnormal heart development, abnormal skeletal development, hypermobile joints, large fingers, knock-knees, widely spaced teeth, large head, bell shaped chest, compression of spinal cord, enlarged heart, and dwarfism.

Morquio disease, type B Treatment

There are only painkilling measures available to treat Morquio syndrome patients. Many physicians also propose cervical spine fusion to affected patients since all of those with the disorder have odontoid hypoplasia that can lead to atlanoaxial subluxation.

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