Phenylketonuria was a keen inherent mistake of amino acid kcalorie burning that will bring about serious injury to the individual otherwise, regarding maternal phenylketonuria, with the foetus. The fresh new maternal phenylketonuria syndrome is caused by highest blood phenylalanine levels while pregnant and you will gift ideas with serious foetal defects, specifically congenital cardiovascular disease, microcephaly and you can rational retardation. Continue reading “An exceptional Albanian members of the family having eight youngsters to present with dysmorphic possess and intellectual retardation: maternal phenylketonuria”