Phenylketonuria In Babies

Phenylketonuria (PKU) is the main cause of infant mortality after birth in the 1960s. This is an amino acid that people normally can not metabolize phenylalanine contained in our food. If you discover it early in life, you can prevent infant mental retardation (Alan Fogel). Simply complete a simple test at the hospital to detect and manage PKU so that they can grow to healthy adults. Through appropriate dietary planning, people with this autosomal recessive disorder can live a normal life with some restrictions, but you can do it.

Neonatal parents may be familiar with phenylketonuria metabolic disorders: in Switzerland all newborns are screened for this genetic disorder. If it is found that the infant is suffering 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 disturbance is a mutation in the gene that provides the blueprint of 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 a mother and inherits mutation genes from a father, it will then develop the disease. So far, the illness is still incurable.

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 phenylalanine amino acid can not be decomposed is because there is no enzyme phenylalanine hydroxylase. Phenylketonuria is an inherited disorder caused by mutations in genes that render the gene phenylalanine hydroxylase (PAH) nonfunctional. Thus, 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 usually is inherited from one generation to another. According to Johnston (2007), phenylketonuria occurs when parents pass defective genes to infants.

Often called "heels", blood is taken from the infant's heel, so these panels are commonly used for general diseases such as phenylketonuria due to common diseases such as sickle cell and cystic fibrosis Because it can screen up to diseases that are not. Symptoms (PKU) or congenital hypothyroidism. As of 2015, the Texas plan contains 53 diseases. The first examination will be done 24 to 48 hours after birth and the second examination will be held at the pediatric health provider office for 1 to 2 weeks. As with other screens, the goal is to find as many babies as possible. If you find these symptoms at an early stage, you will be able to provide appropriate medicine such as changing meals and providing medication.