Phenylketonuria – Causes, Symptoms and Treatments!
Phenylketonuria – Causes, Symptoms and Treatments we should all know. In addition, Phenylketonuria is an autosomal recessive genetic disease characterized by mutation of the metabolic gene that synthesizes the enzyme hepatic phenylalanine hydroxylase (PAH), causing its dysfunction.
This enzyme is needed to convert the amino acid phenylalanine (Phe) into the amino acid tyrosine (Tyr). When PAH activity is reduced, phenylalanine accumulates and becomes phenylpyruvate (also known as phenyl ketones) which can be detected in the urine.
Main Causes of Phenylketonuria: Phenylketonuria is a disorder of normal metabolism. Typically, an enzyme in the body called phenylalanine hydroxylase converts the essential amino acid phenylalanine to another necessary amino acid called tyrosine. If phenylalanine hydroxylase is absent, as is the case in phenylketonuria, phenylalanine accumulates in the blood and leaves the body in the urine.
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Phenylketonuria affects an average of between ten thousand and fifteen thousand babies in Brazil. Because PKU is an inherited disease, there is little variation between different ethnic or racial groups. The disease occurs less frequently among people of African descent (one in fifty babies) and Ashkenazi Jews.
Main Symptoms of Phenylketonuria: Children with phenylketonuria are usually skin, hair and lighter than the rest of their family, but symptoms do not appear until three to six months. Symptoms can include:
- Eczema-like rash;
- Seizures ;
- Hyperkinesia (hyperactivity);
- An unpleasant musty odor in the body (produced by phenylacetic acid in urine and sweat)
- mental retardation.
How Phenylketonuria is Diagnosed: Almost all babies born in hospitals are tested within the first forty-eight hours after birth to detect whether they have phenylketonuria by a blood test that measures phenylalanine levels.
In families with a history of PKU, it is often possible to diagnose the condition in the fetus during pregnancy. A pregnant woman who suffers from phenylketonuria and has not received treatment has a much greater chance of giving birth to a baby with severe birth defects, many times.
Treatments For Phenylketonuria: Children with phenylketonuria should start treatment within a few days of age to prevent the development of mental retardation. They must eat a special diet that restricts the intake of phenylalanine and tyrosine to provide for what the body cannot produce. Babies drink special powdered milk that contains low levels of phenylala-girl.
People with PKU cannot eat protein-rich foods such as meat, poultry, fish, milk, eggs, cheese, ice cream and nuts; nor can they eat products containing wheat flour and products containing the artificial sweetener Aspartamo (also known by some of its brand names such as Nu-traSweet Canderel in the US or Europe). They can, however, eat low-calorie foods such as fruits, vegetables, and certain cereals.
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Failure to follow this regimen can cause serious problems, such as a decline in IQ (intelligence quotient), and create problems with learning and behavior. Experts aren’t sure if your penis a risk-stop treatment or at what age would be desirable. Most of them recommend that people with phenylke-tonuria continue the special regimen for life.