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A 28-year-old female asked:

My 8 months old baby is diagnosed with mucopolysaccharoidosis plz help me is there any treatment or what's its cost?

3 doctor answers5 doctors weighed in
Dr. Tanya Russo
Pediatrics 25 years experience
Mucopolysaccharidosi: is a general term for a genetic defect of enzyme production that causes several syndromes with a variety of characteristics that can overlap. They include face and head abnormalities, heart defects, developmental delay, intellectual impairment, skeletal abnormalities, enlarged liver/spleen, enlarged tongue, hernias and abnormal posture. Treatment is management of the above, cost varies.
Dr. James Ferguson
Pediatrics 46 years experience
No good news: If your child has the label of MPS and is symptomatic by age 8 mo, it is likely a severe form with no available cure. You should find out as much as you can from any local source. The university may have a genetics person on staff that can help. This is generally inherited from 2 unaffected parents and can happen again in any future pregnancy.
Dr. Johanna Fricke
Pediatrics - Developmental and Behavioral 50 years experience
The good news is : that genetic testing & counseling for all + medical treatment for 6 of the 45 Lysosomal Storage Diseases is provided free of charge at AKUH, Civil Hospital, NICH & Ziauddin Hospitals in Karachi by Drs. Salman Ali, Zareen Fasih, Aisha Mehnaz & others. See www.pulsepakistan.com/index.php/main-news-sep-1-13/450-interfamily-marriages-could-be-a-major-cause-of-lysosomal-storage-disorders. Call now.

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Last updated Nov 28, 2017


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