- by Bgs Gleneagles Global Hospitals
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- Dec 19 2017
What is Morquio Syndrome?- Dr. Kishore Kotha
It is also called as Mucopolysaccharidosis type IV. It is a rare lysosomal storage disease (LSD) that is inherited in an autosomal-recessive fashion. It is classified into two types, Morquio A syndrome (mucopolysaccharidosis type IVA) and Morquio B syndrome (mucopolysaccharidosis type IVB), based on a deficiency of different lysosomal enzymes- N-acetylgalactosamine-6-sulfatase (GALNS) and beta-galactosidase, respectively. In most cases, individuals with Morquio syndrome have normal intelligence.
It is an inherited condition. If both parents carry a nonworking copy of a gene related to this condition, each of their children has a 25% chance of developing the disease. This is called autosomal recessive trait. The body needs these enzymes to break down a long strand of sugar molecules called the keratin sulphate sugar chain. In both types, abnormally large amounts of glycosaminoglycans build up in the body, this can damage organs.
Symptoms usually start between ages 1 and 3. They include:
- Abnormal development of bones, including the spine
- Bell-shaped chest with ribs flared out at the bottom
- Coarse facial features
- Hypermobile joints
- Large head
- Short stature with a particularly short trunk
- Widely spaced teeth
The severe form becomes apparent between the ages of one and three and typically presents with knock-knees and breastbone prominence. The slowly progressing form, which may not become apparent until adolescence, presents with hip pain and stiffness.
Several examination and testing are performed which may reveal:
- Abnormal curvature of the spine
- Cloudy cornea
- Heart murmur
- A hernia in the groin
- Enlarged liver
- Loss of nerve function below the neck
- Short Stature
Urine tests are usually done first. These test may show extra mucopolysaccharides, but they can’t determine the specific form of MPS. Other tests may include:
- Blood culture
- Genetic testing
- Hearing test
- Slit-lamp eye exam
- Skin fibroblast culture
- X-rays of the long bones, ribs, and spine.
- MRI of the lower skull and upper neck to determine if their upper vertebrae are underdeveloped.
The U.S. Food and Drug Administration has approved the medicine for Morquio syndrome type A. It is given through a vein.
In 2014, the FDA approved a recombinant human GALNS enzyme replacement therapy (elosulfase alfa) for the treatment of MPS IVA.
Other treatment of MPS IV is symptomatic and supportive. Surgery may be required to stabilise cervical vertebrae, ventricular hyper trophy, keratoplasty.
Genetic counselling is recommended for affected individuals and their families.
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