Definitions for phenylketonuria
ˌfɛn lˌki toʊˈnʊər i ə, -ˈnyʊər-, ˌfin-phenylke·tonuri·a

Princeton's WordNetRate this definition:0.0 / 0 votes

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

WiktionaryRate this definition:0.0 / 0 votes

1. phenylketonurianoun

   A metabolic disorder in which individuals lack the liver enzyme phenylalanine hydroxylase (PAH) which is needed to metabolize the amino acid phenylalanine.

WikipediaRate this definition:0.0 / 0 votes

1. Phenylketonuria

   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.

ChatGPTRate this definition:0.0 / 0 votes

1. phenylketonuria

   Phenylketonuria (PKU) is a rare genetic disorder that affects a person's ability to break down an amino acid called phenylalanine, which is found in various types of food. This results in a buildup of phenylalanine in the blood, causing mental disabilities, behavioral issues, and other health problems. Babies are usually screened for PKU soon after birth and if diagnosed, they need to follow a strict diet in order to prevent permanent damage and allow for normal growth.

WikidataRate this definition:0.0 / 0 votes

1. Phenylketonuria

   Phenylketonuria is an autosomal recessive metabolic genetic disorder characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase, rendering it nonfunctional. This enzyme is necessary to metabolize the amino acid phenylalanine to the amino acid tyrosine. When PAH activity is reduced, phenylalanine accumulates and is converted into phenylpyruvate, which can be detected in the urine. Untreated PKU can lead to mental retardation, seizures, and other serious medical problems. The mainstream treatment for classic PKU patients is a strict PHE-restricted diet supplemented by a medical formula containing amino acids and other nutrients. In the United States, the current recommendation is that the PKU diet should be maintained for life. Patients who are diagnosed early and maintain a strict diet can have a normal life span with normal mental development. However, recent research suggests that neurocognitive, psychosocial, quality of life, growth, nutrition, bone pathology are slightly suboptimal if diet is not supplemented with amino acids.

Matched Categories

1. • Inborn Error Of Metabolism

How to pronounce phenylketonuria?

1. Alex

   US English

   David

   US English

   Mark

   US English

   Daniel

   British

   Libby

   British

   Mia

   British

   Karen

   Australian

   Hayley

   Australian

   Natasha

   Australian

   Veena

   Indian

   Priya

   Indian

   Neerja

   Indian

   Zira

   US English

   Oliver

   British

   Wendy

   British

   Fred

   US English

   Tessa

   South African

How to say phenylketonuria in sign language?

Numerology

1. Chaldean Numerology

   The numerical value of phenylketonuria in Chaldean Numerology is: 6

2. Pythagorean Numerology

   The numerical value of phenylketonuria in Pythagorean Numerology is: 5

Popularity rank by frequency of use

References

1. ^ Princeton's WordNet
   http://wordnetweb.princeton.edu/perl/webwn?s=phenylketonuria
2. ^ Wiktionary
   https://en.wiktionary.org/wiki/Phenylketonuria
3. ^ Wikipedia
   https://en.wikipedia.org/wiki/Phenylketonuria
4. ^ ChatGPT
   https://chat.openai.com
5. ^ Wikidata
   https://www.wikidata.org/w/index.php?search=phenylketonuria