Phenylketonuria is an uncommon birth defect. When a person has Phenylketonuria (PKU), their body has an inability to process a crucial amino acid, phenylalanine hydroxylase. Phenylalanine hydroxylase (PAH) is an enzyme that converts phenylalanine into tyrosine. Tyrosine is the foundation of epinephrine, thyroid hormones, and melanin. Amino acids are the building blocks for proteins. Without these proteins, terrible things can happen to your body.
Only one in every 10,000-15,000 babies is born with PKU. If the parents are, African or Asian the chances are even less. It is most common in Caucasians of northern European decent. For a baby to be born with this, both parents have to have a mutation in their 12th chromosome, 1 in 50 people carry this mutation. Two people that are carriers have a 25% chance of having a child with PKU.
There are over 50 symptoms of Phenylketonuria. The most common symptoms are vomiting, an odor in the breath, skin and urine, tremors, seizures, stunted growth, small head size and lighter skin tone compared to relatives. Newborns do not have symptoms, but untreated in a few months babies with PKU will begin to show signs. In the first month of life a case of PKU that goes untreated brain damage and mental retardation will begin to set in. A child with PKU will have additional symptoms like being destructive, irritable, and restless. Older or adolescent children will have behavioral abnormalities and seizures if left untreated.
In 1934, a Norwegian physician and biochemist named Asbjorn Folling discovered the genetic disorder Phenylketonuria, Commonly called Folling’s disease in Norway. Borgny Egeland had two children named Dag and Liz, when the mother grew concerned over the children’s odd urine odor and color she requested Dr. Folling’s help in a diagnosis. He soon requested urine samples, after many tests he came to a conclusion that the reason the urine smelled...