Phenylketonuria - Symptoms & Treatment

Phenylketonuria is a type of birth apostatize a child inherits from both parents, who pass along the abnormal gene. Person who has phenylketonuria is missing or insufficient in a specific enzyme needed to process an essential amino acid called phenylalanine. It is an inherited disorder which increases the blood levels of a matter called phenylalanine. It is an amino acid which is acquired through the diet. Phenylalanine performs a role in the body's production of melanin, the pigment accountable for skin and hair color. PAH gene cause phenylketonuria. The PAH gene produces an enzyme named as phenylalanine hydroxylase, that converts the amino acid phenylalanine to other essential compounds in the body. Normal levels of this amino acid are essential for brain function. If gene mutations reduce the activity of phenylalanine hydroxylase, phenylalanine from the diet can build up to toxic levels in the bloodstream and other tissues. Excessive phenylalanine damages nerve cells, leading in brain damage. Babies born to mothers having high levels of phenylalanine have a critical risk of mental retardation because they are exposed to very high levels of phenylalanine before birth. These infants may also grow more gradually than other children. Other characteristic medical complications include heart defects or other heart problems, small head size and behavioral problems. Older children and adults must continue to follow a authoritarian diet low in this amino acid.

Phenylketonuria is genetic disorder. It is characterized by an inability of the body to implement the essential amino acid. Amino acids are the building blocks for body proteins. 'Essential' amino acids can only be obtained from the food we eat as our body does not normally make them. This condition is inherited in an autosomal recessive pattern, that means two copies of the gene in each cell are mutated. Most frequent, the parents of an individual with an autosomal recessive disorder each carry one copy of the variated gene but do not show signs and symptoms of the disorder. Large neutral amino acids compete for transport across the blood brain barrier. Excessive phenylalanine in the blood saturates the large neutral amino acid transporter that bears LNAAs across the BBB. Phenylalanine significantly reduce the levels of other LNAAs in the brain. These amino acids are needed for protein and neurotransmitter synthesis. Potein and neurotransmitter synthesis muddles brain development in children, leading to mental retardation .

Causes of Phenylketonuria

Common causes of Phenylketonuria

• Phenylalanine hydroxylase.
• Amino acids.

Symptoms of Phenylketonuria

Common Symptoms of Phenylketonuria

• Mental retardation
• Behavioral or social problems.
• Seizures.
• Tremors or jerking.
• Hyperactivity
• Skin rashes.
• Small head size.
• Vomiting.

Treatment of Phenylketonuria

Common Treatment of Phenylketonuria

• Strict diet with very limited levels of phenylalanine, that is mostly present in protein.
• Avoided by containing aspartame children with this infirmity containing aspartame
• Tetrahydrobiopterin (BH4) has been used in moderate cases as an experimental treatment.
• Avoid foods, including many diet sodas, and medications made with aspartame (NutraSweet, Equal).
• Genetic counseling is prescribed for prospective parents with a family history of PKU.