What does PKU mean?

Definitions for PKU
pku

This dictionary definitions page includes all the possible meanings, example usage and translations of the word PKU.

Princeton's WordNet

  1. phenylketonuria, PKUnoun

    a genetic disorder of metabolism; lack of the enzyme needed to turn phenylalanine into tyrosine results in an accumulation of phenylalanine in the body fluids which causes various degrees of mental deficiency

Wikipedia

  1. PKU

    Phenylketonuria (PKU) is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine. Untreated PKU can lead to intellectual disability, seizures, behavioral problems, and mental disorders. It may also result in a musty smell and lighter skin. A baby born to a mother who has poorly treated PKU may have heart problems, a small head, and low birth weight.Phenylketonuria is an inherited genetic disorder. It is due to mutations in the PAH gene, which results in low levels of the enzyme phenylalanine hydroxylase. This results in the buildup of dietary phenylalanine to potentially toxic levels. It is autosomal recessive, meaning that both copies of the gene must be mutated for the condition to develop. There are two main types, classic PKU and variant PKU, depending on whether any enzyme function remains. Those with one copy of a mutated gene typically do not have symptoms. Many countries have newborn screening programs for the disease.Treatment is with a diet that (1) is low in foods that contain phenylalanine, and which (2) includes special supplements. Babies should use a special formula with a small amount of breast milk. The diet should begin as soon as possible after birth and be continued for life. People who are diagnosed early and maintain a strict diet can have normal health and a normal life span. Effectiveness is monitored through periodic blood tests. The medication sapropterin dihydrochloride may be useful in some.Phenylketonuria affects about 1 in 12,000 babies. Males and females are affected equally. The disease was discovered in 1934 by Ivar Asbjørn Følling, with the importance of diet determined in 1935. Gene therapy, while promising, requires a great deal more study as of 2014.

ChatGPT

  1. pku

    PKU, also known as Phenylketonuria, is a rare genetic disorder that inhibits the body's ability to break down the amino acid phenylalanine, leading to a buildup in the bloodstream. If left untreated, the excess can cause intellectual disability and other serious health-related issues. Infants in many countries are screened for PKU shortly after birth.

Wikidata

  1. Pku

    The pku, alternatively spelled pzuk, is an Armenian musical instrument, similar to a clarinet. It has been called the national instrument of Armenia. The pku is a single-reed aerophone with seven holes and a one octave range with the open cone of a bull horn at one end.

Suggested Resources

  1. PKU

    What does PKU stand for? -- Explore the various meanings for the PKU acronym on the Abbreviations.com website.

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Numerology

  1. Chaldean Numerology

    The numerical value of PKU in Chaldean Numerology is: 7

  2. Pythagorean Numerology

    The numerical value of PKU in Pythagorean Numerology is: 3

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"PKU." Definitions.net. STANDS4 LLC, 2024. Web. 19 Mar. 2024. <https://www.definitions.net/definition/PKU>.

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