The high plasma phenylalanine concentrations increase phenylalanine entry into brain and restrict the entry of other large neutral amino acids. In the literature, emphasis has been on high brain phenylalanine as the pathological substrate that causes mental retardation. Phenylalanine was found to interfere with different cerebral enzyme systems.
However, apart from the neurotoxicity of phenylalanine, a deficiency of the other large neutral amino acids in brain may also be an important factor affecting cognitive function in phenylketonuria. Christ and colleagues combined the most recent advancements in MRI imaging with the most sensitive detailed analytical techniques, including manual hand segmentation of the MRI data. Christ said. We think that our research has the potential to contribute to better understanding of the mechanisms underlying the abnormalities in brain and behavior associated with this disorder; thus, it may inform the development of new and exciting treatments for PKU.
Skip to main content. The online home of Neurology Reviews. Literature Review. A defective gene genetic mutation causes PKU, which can be mild, moderate or severe. In a person with PKU, this defective gene causes a lack of or deficiency of the enzyme that's needed to process phenylalanine, an amino acid.
A dangerous buildup of phenylalanine can develop when a person with PKU eats protein-rich foods, such as milk, cheese, nuts or meat, and even grains such as bread and pasta, or eats aspartame, an artificial sweetener. This buildup of phenylalanine results in damage to nerve cells in the brain.
For a child to inherit PKU, both the mother and father must have and pass on the defective gene. This pattern of inheritance is called autosomal recessive. It's possible for a parent to be a carrier — to have the defective gene that causes PKU, but not have the disease.
If only one parent has the defective gene, there's no risk of passing PKU to a child, but it's possible for the child to be a carrier. Most often, PKU is passed to children by two parents who are carriers of the disorder, but don't know it. Untreated PKU can lead to complications in infants, children and adults with the disorder. When mothers with PKU have high blood phenylalanine levels during pregnancy, fetal birth defects or miscarriage can occur. Mayo Clinic does not endorse companies or products.
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Overview Phenylketonuria fen-ul-key-toe-NU-ree-uh , also called PKU, is a rare inherited disorder that causes an amino acid called phenylalanine to build up in the body. Email address. First Name let us know your preferred name. Last Name. Thank you for subscribing Your in-depth digestive health guide will be in your inbox shortly.
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