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Adnin and Aqilah – MPS IVA or Morquio Syndrome

22 July 2011

Adnin and Aqilah, the fourth and fifth in the family, are affected with MPS IVA or Morquio Syndrome.

They were diagnosed at City Hospital, Nottingham, UK, a day before Adnin’s eighth birthday, where traces of keratane sulphate was found in Adnin’s blood.

Our first three children are normal but they have not been tested whether they are carrier or not. Adnin and Aqilah were born normal; Adnin was 3.25 kg, and Aqilah 3.3 kg. There was no symptom at all as their early developments were at par with their other siblings.

Adnin has a cousin around the same age; as they grow, we noticed that Adnin did not grow as much as her cousin. We took her to University Malaya Medical Center where she was initially diagnosed with skeletal dysplasia. When she was about to go for further test to get properly diagnosed, we moved to UK. With the referral letter, we took Adnin and Aqilah to see the GP in Nottingham, where we were referred to City Hospital for diagnosis.

We were quite calm when the specialist informed us of the diagnosis. As a muslim, we accept what God has given us and our aim is to make the best for Adnin and Aqilah and make sure that they have quality lives. They were referred to Birmingham Children’s Hospital for further check ups.

Individuals with MPS IVA are missing the enzyme galactosamine-6-sulphate, essential in breaking down of Keratane Sulphate. Incompletely broken down of Keratane Sulphate remains stored inside parts of cells called lysosomes. The lysosomes become swollen and disrupt cell functioning causing progressive damage.

Clinical symptoms of Morquio syndrome include short stature (Adnin is now 95 cm while Aqilah 91 cm), genu valgum (knocked knee), pigeon chest, corneal clouding, flat nose bridge, prominent forehead, and hypermobile joints.

The most critical complication is cervical cord compression where surgery is required to correct it. The only blessing is that this syndrome does not affect the brain, thus, individuals affected with Morquio have normal intelligence.

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