Mucopolysaccharidosis type IV
Mucopolysaccharidosis type IV Causes
Type A of this Mucopolysaccharidosis is caused by a deficiency of the enzyme N-acetylgalactosamine-6-sulfate sulfatase while type B is caused by a deficiency of the enzyme beta-galactosidase.
Mucopolysaccharidosis type IV Definition
This is also known as Morqui syndrome, a disorder known to be autosomal recessive mucopolysaccharide disease that is usually inherited. It is also considered somewhat a rare case of dwarfism with serious consequences. This happens when the body is unable process certain types of mucopplysaccharides, then 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.
Mucopolysaccharidosis type IV Diagnosis
Unusual curvature of the spine or kyphoscoliosis, cloudy cornea, heart murmur, inquinal hernia, liver enlargement, loss of nerve function below the neck and short stature may be revealed through a physical examination. Blood culture, echocardiogram, genetic testing, hearing test, slit-lamp eye exam, skin fibrolast culture and x-rays of the long bones, ribs and spine are also possible tests.
Mucopolysaccharidosis type IV Symptoms and Signs
Morquio syndrome has an several symptoms and 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.
Mucopolysaccharidosis type IV Treatment
Now, only soothing measures are available to treat Morquio syndrome patients. Physicians normally recommend cervical spine fusion to patients since all of those with the disorder have odontoid hypoplasia that can lead to atlanoaxial subluxation.