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I2S activity low
Got the I2S activity low in the new born screening
When checked the IDS gene it showed a VUS variant
Mother is also tested and found to have the same variant
Follow-up testing showed slightly elevated heperan sulphate 1.6
Does that mean the kid is diagnosed with MPS2
Answers (3)
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Kindly consult your paediatrician for further examination.
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Dr. Shebin C E
Pediatrician
10 yrs exp
Kanyakumari
Greetings
These findings strongly suggest but do not definitively confirm a diagnosis of Mucopolysaccharidosis Type II (MPS II / Hunter syndrome). A Variant of Uncertain Significance (VUS) shared with the mother means that the genetic testing alone is currently inconclusive. However, the combination of low I2S enzyme activity alongside elevated heparan sulfate demands careful clinical investigation. You should schedule an immediate consultation with a pediatrician or a medical geneticist. They can perform functional confirmation testing, such as leukocyte or fibroblast enzyme analysis, to see if the variant truly impairs enzyme function.
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Disclaimer : The content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding your medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.