AllRefer Health - Morquio Syndrome Diagnosis & Tests (Mucopolysaccharidosis Type IVA (Galactosamine-6-Sulfatase Deficiency), Mucopolysaccharidosis Type IVB (Beta Galactosidase Deficiency))

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You are here : AllRefer.com > Health > Diseases & Conditions > Morquio Syndrome: Diagnosis, Tests, & Signs of Morquio Syndrome

Morquio Syndrome


•	Definition
•	Overview, Causes, & Risk Factors
•	Symptoms & Signs
•	Prevention
•	Diagnosis & Tests
•	Treatment
•	Expectations or Prognosis
•	Complications
•	Support Groups
•	Calling Your Health Care Provider
•	Go To Main Page

Alternate Names : Mucopolysaccharidosis Type IVA (Galactosamine-6-Sulfatase Deficiency), Mucopolysaccharidosis Type IVB (Beta Galactosidase Deficiency)

Morquio Syndrome Diagnosis & Tests

Physical examination and testing shows:

Cloudy cornea
Liver enlargement
Inguinal hernias
Kyphoscoliosis (abnormal curvature of the spine)
Short stature (especially short trunk)
Aortic regurgitation (heart murmur)
Loss of nerve function below the neck

Tests

X-ray of the long bones
X-ray of the ribs
X-ray of the spine shows abnormal vertebrae and osteoporosis
Urine chemistry, keratosulfate or chondroitin sulfate may be increased
Culture of skin fibroblasts or white blood cells for deficient galactosamine-6-sulfatase or beta galactosidase enzyme activity
Hearing test
Slit-lamp eye exam for abnormal deposits in cornea
Echocardiogram may show thickened heart valves
Genetic testing may be available

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• Definition
• Morquio Syndrome Overview, Causes, & Risk Factors
• Morquio Syndrome Symptoms & Signs
• Morquio Syndrome Prevention
• Morquio Syndrome Diagnosis & Tests
• Morquio Syndrome Treatment
• Morquio Syndrome Prognosis
• Morquio Syndrome Complications
• Morquio Syndrome Support Groups
• Calling Your Health Care Provider

Review Date : 8/6/2003
Reviewed By : Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

Main Page of Morquio Syndrome

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