What is Morquio A Syndrome?

What is Morquio A Syndrome?

Morquio Syndrome or type IV a mucopolysaccharidosis is a type of lysosomal storage disorder (LSD) which is inherited. This syndrome is caused due to N-acetylgalactosamine-6-sulfatase (GALNS) enzyme deficiency due to the GALNS gene mutation. The GALNS gene is located in chromosome 16q24.3. The enzyme deficiency results in the tissue accumulation of glycosaminoglycans, mainly chondroitin-6-sulphat and keratan sulphate.
 


Figure 1. Patients with Morquio A Syndrome

 

How rare is Morquio A syndrome?

The prevalence of Morquio A syndrome is 1/40.000 – 1/200.000 births. Males as well as females have the same risk to be inherited this disease. The inheritance is autosomal recessive.

 

What are the symptoms of Morquio A syndrome?

Babies with Morquio A syndrome seem normal at birth, but the accumulation of storage material in tissues and organs will result in the disturbances of cell function.

 

The accumulation of storage material eventually causes deformities in the bones and joints, airway disturbances, spinal compression, heart diseases, vision and hearing distubances, dental problems and slight liver enlargement.

 

Patient needs to undergo a bone survey (as can be seen in figure 2) in order to diagnose this syndrome. The next step would be to determine the GALNS enzyme levels.
 


 

Figure 2. A Bone Survey for Morquio A syndrome

A,B: Platyspondyly of the spine. C: Pointing image at the edge of the metacarpal bone; D: Late ossification and fixation of the femoral head, irregular epiphysis and secondary widening of the of the proximal femur and around the knees.

 

How is Morquio A treated?

Patients with Morquio A syndrome needs to be referred to an integrated healthcare system to undergo a comprehensive multi-system evaluation. Pediatricians from the Nutrition and Metabolic Disease department is the head of the team, accompanie by doctors from the medical rehabilitation department, physiotherapists, occupational therapist, ENT department, Cardiology department and sometimes from the Surgery department depending on the complications found in patient.

 

Enzyme replacement therapy with:
 

elosulfase alfa has been approved by adalah terapi yang sudah disetujui the Food Drug Administration (FDA), USA since 2014. Lifelong enzyme replacement therapy is administered weekly through infusion.
 

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