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My child was diagnosed with classical phenylketonuria when he was 11 days old. Genetic testing has been performed and no mutations have been detected. What does this show? The 106 most common mutations were investigated.
Since your child has been clinically diagnosed withphenylketonuriaon the basis of biochemical tests in the classical form, genetic diagnostics should be continued. So far, only the most common mutations have been excluded, which means that the mutations responsible for your child's disease should be looked for elsewhere in the PAH gene.
If the sequencing method examines the entire gene and fails to detect two pathogenic mutations (the disease is inherited in an autosomal recessive manner, so in order to get sick, the child must inherit a damaged copy of the gene from both the father and the mother), then consider performing a different method (MLPA) test for the presence of a deletion - i.e. loss of part or the entire gene.
Remember that our expert's answer is informative and will not replace a visit to the doctor.
Krystyna SpodarKrystyna Spodar - specialist in the field of clinical genetics at NZOZ Genomed, ul. Ponczowa 12, 02-971 Warsaw, www.nzoz.genomed.pl, e-mail: [email protected]
The expert answers questions about genetic diseases and congenital malformations, inheritance, and prenatal diagnosis.
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