Definition

What is Mucopolysaccharidosis type VII?

Mucopolysaccharidosis type VII, which is also known by the name of Mucopolysaccharidosis type VII is a progressive congenital disorder which tends to affect almost all of the tissues and organs of the body. The clinical features of MPS VII vary from patient to patient, but all have short stature due to growth retardation and skeletal abnormalities, changes in bones visible on X-rays (dysostosis multiplex), and some degree of intellectual disability. The severity at which this condition affects a child is although variable. At its worst, Mucopolysaccharidosis type VII can cause the child to have excess fluids present in the body even before birth. In such cases, either the baby is stillborn or is only able to survive a couple of hours after birth.

How common is Mucopolysaccharidosis type VII?

MPS VII is extremely rare, affecting only about one in 250,000 births. Fewer than 100 cases have been reported in the United States. Males and females are affected in equal numbers. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of Mucopolysaccharidosis type VII?

The symptoms of Mucopolysaccharidosis type VII are variable and differ from person to person depending on the severity of the disease condition. Some of the most prominent symptoms of Mucopolysaccharidosis type VII are:

  • Mental retardation
  • Developmental delays
  • Intellectual disability
  • Abnormally short stature
  • Short trunk
  • Intestinal abnormalities
  • Abnormalities of the eyes

Musculoskeletal deformities to include prominent breast bone, frequent dislocations of the hip, frozen joints, club foot, genu valgum, kyphosis in some cases and:

  • Splenomegaly
  • Hepatomegaly
  • Inguinal hernia

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you or your loved one has any signs or symptoms listed above or ha any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes Mucopolysaccharidosis type VII?

MPS VII is caused by changes (mutations) in the GUSB gene that lead to deficiency of the beta-glucuronidase enzyme. The main function of the enzyme beta-glucuronidase is breaking down of sugar molecules. If the enzyme does not function properly, there will be a gradual accumulation of the sugar molecules, lysosomes to be more specific, which causes various organs of the body to get enlarged causing Mucopolysaccharidosis type VII.

Mucopolysaccharidosis type VII is an autosomal recessive trait meaning that two copies of the defective gene from each parent are required for the development this condition.

Risk factors

What increases my risk for Mucopolysaccharidosis type VII?

Please consult with your doctor for further information.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is Mucopolysaccharidosis type VII diagnosed?

Mucopolysaccharidosis type VII can be easily diagnosed through a detailed clinical evaluation of the patient to include a detailed history of the patient and the family history of any other members of the family being diagnosed with this condition.

If Mucopolysaccharidosis type VII is suspected, then specific tests to measure the levels of beta-glucuronidase will be done in the blood to look for any accumulation or lysosomal enlargement.

Once the testing show elevated levels of this molecule then genetic testing for mutations of GUSB gene will be done which will confirm the diagnosis of Mucopolysaccharidosis type VII.

How is Mucopolysaccharidosis type VII treated?

There is no specific treatment for Mucopolysaccharidosis type VII. The treatment is mainly supportive and symptomatic. Surgery may be required for treating bone deformities and conditions like hernias. It may also be required for treating ocular abnormalities and cardiovascular defects if any are identified.

People with Mucopolysaccharidosis type VII tend to be very sensitive to anesthesia due to malformed airways or defect in the cervical spine and hence the anesthesiologist should be very careful while administering anesthesia for doing any surgeries in patients with Mucopolysaccharidosis type VII.

Genetic counseling is also recommended for people who have a child with Mucopolysaccharidosis type VII or who have risk factors for their off springs to develop Mucopolysaccharidosis type VII.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Mucopolysaccharidosis type VII?

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: February 22, 2018 | Last Modified: February 22, 2018

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