Phenylketonuria

Phenylketonuria, also known as PKU, is a rare inherited disorder caused by the body's inability to metabolize the amino acid phenylalanine. This disease may lead to mental retardation due to accumulation of phenylalanine in the body. If phenylalanine is converted into another amino acid tyrosine without being degraded, it may produce other enzymatic pathways accumulating in the bloodstream and body tissues. This is very harmful to the body and its development. This disease is caused by the absence of phenylalanine hydroxylase enzyme, an enzyme that degrades phenylalanine. This enzyme is rarely completely absent, but this form causes the most severe mental retardation and neurological problems. In most cases this occurs when the enzyme is deficient and the amount of phenylalanine is slightly greater than the normal amount of human cardiovascular system. This is called hyperphenylalaninemia. These diseases are different from everyday!

Beijing University (Shuett; McKusick) PKU occurs immediately at birth. The child looks perfectly normal, but it can have blue eyes, it is fairly white and the hair color is cleaner than other families. PKU

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Neonatal parents may be familiar with metabolic disorders of phenylketonuria. In Switzerland, all newborn babies are screened for this genetic disorder. If it turns out that the baby suffers from phenylketonuria, a special diet is needed to prevent the amino acid phenylalanine from accumulating in the body. Excess phenylalanine slows mental and motor development. Children may suffer from severe psychiatric disorders when left untreated. The cause of this metabolic disorder is a gene mutation that provides a blueprint for the enzyme phenylalanine hydroxylase (Pah). This enzyme, produced by hepatocytes, metabolizes phenylalanine. This disease is called "autosomal recessive inheritance": if a child inherits a mutation gene from her mother and inherits the gene from her father, it develops the disease. So far, the illness has not healed yet.

Phenylketonuria (PKU) refers to a condition in which the newborn lacks the ability to degrade certain types of amino acids known as phenylalanine. The reason why the phenylalanine amino acid can not be decomposed is because the enzyme phenylalanine hydroxylase is absent. Phenylketonuria is an inherited disorder caused by mutations in genes that render the gene phenylalanine hydroxylase (PAH) nonfunctional. Therefore, phenylalanine and other related substances accumulate in the body, resulting in the formation of phenyl phosphate which is detected in the patient's urine. Phenylketonuria is usually inherited from one generation to another. According to Johnston (2007), phenylketonuria occurs when parents pass defective genes to infants.

Phenylketonuria (PKU) is a prominent example of a single gene disease with an autosomal recessive inheritance pattern. PKU is associated with a genetic mutation encoding phenylalanine hydroxylase (PAH); if one has these mutations, he or she can not produce PAH correctly and he or she therefore Can not decompose the amino acid phenylalanine thereafter. As a key component of dietary protein, high levels of phenylalanine accumulate in the urine and blood of PKU patients, which ultimately lead to mental retardation and behavioral abnormalities.