Phenylketonuria (PKU) also known as Folling's Disease is a rare autosomal recessive disorder which causes toxic build up of phenylalanine, leading to microcephaly, seizures, severe intellectual disability and behavioral problems in untreated individuals. Maternal PKU results in the risk to have offspring with microcephaly, congenital heart defects, cognitive disability and low birth weight. It is an autosomal recessive condition where both the parents have to be alleles in order for the offspring to develop symptoms.
Although no reliable epidemiological studies have been conducted in India, it is believed that 1 out of about 20000 pregnancies may present with PKU. This is in marked contrast to Turkey where the incidence rate is as high as 1 in 2000. With adequate treatment during pregnancy, children born to mothers with PKU can have normal cognitive development and maintenance of…
