Morquio disease
Morquio disease
Description, Causes and Risk Factors:
Alternative Name: Morquio syndrome, Brailsford-Morquio disease, Morquio-Ullrich disease, type IVA, B mucopolysaccharidosis, Galactosamine-6-sulfatase deficiency, mucopolysaccharidosis type IVB, Beta galactosidase deficiency, MPS IV.
Morquio syndrome is an inherited disease of metabolism in which the body is missing or does not have enough of a substance needed to break down long chains of sugar molecules called glycosaminoglycans (formerly called mucopolysaccharides). The syndrome belongs to a group of diseases called mucopolysaccharidoses (MPS). Specifically, it is known as MPS IV.
Morquio syndrome is an autosomal recessive trait. That means both your parents must pass you the defective gene in order for you to get this disease.
There are two forms of Morquio syndrome: Type A and Type B.
Morquio syndrome Types B: Persons with Type B do not produce enough of an enzyme called beta-galactosidase.
Morquio syndrome Types A: Persons with Type A do not have a substance (enzyme) called galactosamine-6-sulfatase.
A genetic defect has been identified in the N-acetyl-galactosamine-6-sulfate sulfatase (GALNS gene) in Morquio's syndrome type IVA or beta-galactosidase (GLB1 gene) in Morquio's syndrome type IVB. The catabolism of chondroitin 6-sulfate is also affected by the GALNS gene defect.
The body needs these enzymes to break down a long strand of sugar molecules called the keratan sulfate sugar chain. In both types, abnormally large amounts of glycosaminoglycans build up in the body and brain, which can damage organs.
The syndrome is estimated to occur in 1 of every 200,000 births. Symptoms usually start between ages 1 and 3. A family history of the syndrome raises one's risk for the condition.
Symptoms:
Macrocephaly (large head).
Knock-knees.
Widely spaced teeth.
Bell-shaped chest with ribs flared out at the bottom.
Short stature with a particularly short trunk.
Hypermobile joints.
Abnormal development of bones, including the spine.
Coarse facial features.
Diagnosis:
The doctor will perform a physical examination. Examination and testing may reveal:
Cloudy cornea.
Heart murmur (aortic regurgitation).
Inguinal hernia.
Liver enlargement.
Loss of nerve function below the neck.
Short stature (especially short trunk).
Abnormal curvature of the spine (kyphoscoliosis).
Urine Tests: Urine tests are usually done first. These tests may show extra mucopolysaccharides, but they can't determine the specific form of MPS.
Other tests may include:
Echocardiogram.
Genetic testing.
Hearing test.
Slit-lamp eye exam.
Skin fibroblast culture.
X-rays of the long bones, ribs, and spine.
Blood culture.
Treatment:
There is no specific treatment for Morquio syndrome. Treatment for Morquio syndrome is focused on managing symptoms and identifying complications quickly so that they can be treated. Patients can consult several different doctors for assistance with managing the condition, and various treatment options including prophylactic steps such as spinal fusion are available. When selecting a doctor to manage treatment, it is advisable to find one who has experience working with patients who have this condition.
NOTE: The above information is educational purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.
Reference and Source are from:
DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.

Men Who Can Do 40 Push-Ups Have Lower Risk of Heart Disease
A new study from the US suggests that middle-aged men who are able to do 40 push-ups and more in one session have lower risk of cardiovascular disease than men who can do fewer than 10 push-ups. For a retrospective longitudinal study from 2000 to 2010, 1,104...

Getting Enough Sleep at Night Can Reduce the Risk of Heart Disease
Recent research from Massachusetts General Hospital in Boston, US, suggests that getting enough sleep at nights connected to the decreased risk of developing atherosclerosis, a condition in which plaque builds up on the inner walls of the arteries. For the study, a...
Featured Products
Kangoo Jumps Training: 5 Beginner Exercises
In childhood, many of us dreamed of learning to jump high. Now, after years, it became easier - Kangoo Jumps has appeared. This is one of the relatively new, but quickly gaining popularity types of fitness training. There are several advantages of jumpers. ...
read more4 Sport Activities That’ll Keep You in Shape for The New Year
It is time for us to find the solution how to deal with extra weight which is coming with Christmas and New Year’s celebrations because 2018 is almost over and 2019 is getting closer. The main aim is obviously staying in shape and today will find an effective way to...
read more4 Unexpected Facts How Sport Helps to Maintain a Healthy Psyche
We know that moderate exercise strengthens our health and makes us more beautiful. But few know about the importance of doing sports as psychotherapy. And, nevertheless, physical loads can save from depressions, reduce anxiety, relieve from professional burnout,...
read more
0 Comments