An exceptional Albanian friends that have eight children presenting having dysmorphic enjoys and you may intellectual retardation: maternal phenylketonuria

Phenylketonuria was an inherent mistake out of amino acidic metabolic process that will trigger major injury to the individual otherwise, when it comes to maternal phenylketonuria, on the foetus. The maternal phenylketonuria problem is a result of large blood phenylalanine density while pregnant and you can gift suggestions with big foetal defects, particularly congenital cardiovascular illnesses, microcephaly and intellectual retardation.

I breakdown of a compromised Albanian lady along with her 7 children. The mother is impacted by phenylketonuria that is a compound heterozygote for a couple of pathogenetic mutations, L48S and you can P281L. (more…)