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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 (5)
I totally understand your concern. Before suggesting treatment, I would like to ask a few questions to ensure the correct management can be provided.
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Dr. G. Avinash MBBS, MD (Pediatrics) Fellowship in Neonatology
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Dr Faisal Zoheb
MBBS , MD PAEDIATRICS , PGPN (BOSTON), FELLOWSHIP IN NEONATOLOGY ( Newborn and vaccination specialist )
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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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