Mucopolysaccharidosis

 
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Posted by Shruti Bajaj On date 17 May, 2018
 
15 May 2018
- #WorldMucopolysaccharidosisDay#

Today we wish to spread the word about the master of guises,
#Mucopolysachharidosis#

Early hernia surgery, stiff joints without pain and developmental delay
Could it be MPS1?

Think of MPS2 if you find a matching phenotyic pedigree of only affected sons.

No coarseness, no organs on palapation, but treated for ADHD; I scratch my head...could it be MPS3?

MPS4 should be on your radar, if you see a rachitic child not getting okay with Vitamin D (not to forget the platyspondyly)

Clouded cornea, skeletal dysostosis, short in height: could be a feature of many MPSs; keep in mind MPS6

Facial coarseness in the neonatal period, is it I cell disease or is it MPS7?
Oh a clinical fix!

Don't stop at the GAG report, do the mutation profile
Only then can you offer prenatal counseling in a confident style!

Think of them early, think of them quick
Is it really fair
That
Treatment options are available, and these kids still remain sick?


 
 
Comments
U
umme
The enzyme replacement therapy is available but is it affordable?
Like (0)       Reply    1 year ago
 
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