A child with maternal PKU, with detected only one mutation, is following a standard PKU diet because of elevated levels of PKU. The clinical presentation is the same as in PKU and still the child is a carrier of one mutation only.
Elsayed Abdelkreem
How old is he??
Have you studied the mutations at the levels of genomic DNA only?
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Elsayed Abdelkreem
I want to confirm that I have understood you well. you found only one heterozygous mutation in this child by analysis of genomic DNA only, but he has the clinical and biochemical phenotype of classic PKU. Am I right??
Again, How old is he now?
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Hadil Kathom
We made standard sequencing of the PAH gene and we found only one mutation. He has maternal PKU syndrome plus he presents biochemical changes as a classical PKU patient. He is 3y 6mo old now.
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