Phenylketonuria, or PKU is an inherited birth defect in which babies are born without the ability to properly break down an amino acid called phenylalanine. Phenylalanine occurs naturally in protein-rich foods. Excess intake of protein foods causes phenylalanine to build up in the body, which leads to damage to the brain and central nervous system, according to MayoClinic.org. Babies with positive PKU screening tests are placed on a special diet.
Phenylketonuria, commonly referred to as PKU, is a genetic disorder that leads to the build up of the amino acid phenylalanine in the blood. Untreated, PKU can cause metal retardation and serious health effects. According to th...
Phenylketonuria is a condition in which a genetic mutation results in the inability to synthesize the enzyme to digest the amino acid phenylalanine. As one of 20 amino acid units of proteins, phenylalanine is found in abundance...
Phenylketonuria is an inherited metabolism disorder that causes a buildup of phenylalanine, an amino acid, due to the absence of the phenylalanine hydroxylase enzyme. This enzyme usually converts phenylalanine into the amino a...
Phenylketonuria, or PKU, is a genetic disorder that affects a gene responsible for breaking down phenylalanine, an amino acid, according to the Mayo Clinic. This leads to a build up of phenylalanine, which can cause health and ...
Phenylketonuria affects one in 10,000 to 15,000 newborns in the U.S. according to the Genetics Home Reference, a service of the U.S. National Library of Medicine. The condition results from a mutated gene passed on from both of...
A gene mutation which occurs before birth, phenylketonuria, also referred to as PKU, eliminates or dramatically reduces the body's ability to break down phenylalanine, or PHE, in proteins, according to the Mayo Clinic. Though t...
...process of passing on genes to newborns called autosomal recessive pattern, the potential parents each carry one copy of the mutated gene without any signs or symptoms of the actual condition, called phenylketonuria. Why som...