What’s PKU – Katheryn Moseley MSRD

Very simply it is an inborn issue in metabolism that is detectable during the very first days of birth with appropriate blood testing (such as throughout routine neonatal screening). PKU or Phenylketonuria is described by absence or reduce of an enzyme referred to as (phenylalanine hydroxylase) that is responsible for processing the important amino acid phenylalanine.

In our physique Amino acids are the chemical building blocks of proteins that are important for correct growth and development. With regular enzyme activity, phenylalanine is changed to an additional amino acid known as (tyrosine), which is then used by the physique. However, when the phenylalanine hydroxylase enzyme is absent or decreased the phenylalanine abnormally gathers in the blood and becomes very toxic to different brain tissues.

You will find couple of symptoms that include PKU that are usually not present in newborns. Affected infants might be abnormally sleepy and listless (lethargic) and could also have difficulties eating. In addition, untreated infants with PKU have a tendency to have unusually light colored eyes, skin, and hair with (light pigmentation). They might also create a rash that appears similar to eczema, which is an inflammatory skin condition that may be characterized by plenty of itching, redness, and blistering in affected areas.

Now without therapy, most infants with PKU create mental retardation which is typically severe. Those with untreated PKU may also develop extra neurologic symptoms, like periods of uncontrolled electrical activity within the brain known as (seizures), increased activity that is known as (hyperactivity) and poor coordination with clumsy manner of walking

There’s also abnormal posturing, aggressive behavior, or psychiatric disturbances. Extra symptoms and findings might consist of nausea, vomiting, along with a musty physique odor due to the presence of a item by the name of (phenylacetic acid) within the urine and sweat.

Treatment for this issue comes having a special diet plan low in phenylalanine. The goal would be to normalize the levels of phenylalanine and tyrosine in the blood level to prevent brain damage. Most experts suggest that a phenylalanine-restricted diet ought to be a lifelong process in individuals with PKU. In terms of classical PKU it refers to persons with two extremely severe mutations with the phenylalanine hydroxylase gene. Failure of treatment results in unstoppable mental retardation and epilepsy.

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Brock Lesner has over 15 years of experience in the medical field. He specializes in diet. Learn more about diet and PKU.