Disease or Syndrome
phenylketonuria
phen·yl·ke·to·nu·ri·a [ fen-l-kee-toh-noo r-ee-uh, -nyoo r-, feen- ]
Subclass of:
Amino Acid Metabolism, Inborn Errors;
Brain Diseases, Metabolic, Inborn
Also called:
PKU
Definitions related to phenylketonurias:
-
An autonomic recessive genetic disorder characterized by the body's inability to metabolize and utilize the amino acid phenylalanine, resulting in mental retardation, behavioral and movement problems, seizures, and developmental delays.NCI ThesaurusU.S. National Cancer Institute, 2021
-
An inherited disorder that causes a build-up of phenylalanine (an amino acid) in the blood. This can cause mental retardation, behavioral and movement problems, seizures, and delayed development. Using a blood test, PKU can easily be found in newborns, and treatment is a diet low in phenylalanine.NCI Dictionary of Cancer TermsU.S. National Cancer Institute, 2021
-
Group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme phenylaline hydroxylase or less frequently by reduced activity of dihydropteridine reductase.CRISP ThesaurusNational Institutes of Health, 2006
-
Phenylketonuria (PKU) is a type of amino acid metabolism disorder. It is inherited. If you have it, your body can't process part of a protein called phenylalanine (Phe). Phe is in almost all foods. If your Phe level gets too high, it can damage your brain and cause severe intellectual disability. All babies born in U.S. hospitals must now have a screening test for PKU. This makes it easier to diagnose and treat the problem early. The best treatment for PKU is a diet of low-protein foods. There are special formulas for newborns. For older children and adults, the diet includes many fruits and vegetables. It also includes some low-protein breads, pastas and cereals. Nutritional formulas provide the vitamins and minerals you can't get from their food. Babies who get on this special diet soon after they are born develop normally. Many have no symptoms of PKU. It is important to stay on the diet for the rest of your life. NIH: National Institute of Child Health and Human DevelopmentMedlinePlusU.S. National Library of Medicine, 2021
-
A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (i.e., atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al., Principles of Neurology, 6th ed, p952).NLM Medical Subject HeadingsU.S. National Library of Medicine, 2021
-
Phenylalanine hydroxylase (PAH) deficiency results in intolerance to the dietary intake of the essential amino acid phenylalanine and produces a spectrum of disorders. The risk of adverse outcome varies based on the degree of PAH deficiency. Without effective therapy, most individuals with severe PAH deficiency, known as classic PKU, develop profound and irreversible intellectual disability. Affected individuals on an unrestricted diet who have phenylalanine levels above normal but below 1,200 �mol/L (20 mg/dL) are at much lower risk for impaired cognitive development in the absence of treatment.GeneReviewsUniversity of Washington, 2021
-
Phenylketonuria is a disorder of amino acid metabolism that causes a clinical syndrome of intellectual disability with cognitive and behavioral abnormalities caused by elevated serum phenylalanine. The primary cause is deficient phenylalanine hydroxylase activity. Diagnosis is by detecting high phenylalanine levels and normal or low...Merck & Co., Inc., 2020
-
Phenylketonuria (PKU), the most common inborn error of amino acid metabolism, results from an impaired ability to metabolize the essential amino acid phenylalanine. Deficiency of the enzyme phenylalanine hydroxylase (PAH) leads to accumulation of phenylalanine in body fluids.WebMD, 2019
-
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. PKU is caused by a defect in the gene that helps create the enzyme needed to break down phenylalanine.Mayo Foundation for Medical Education and Research
-
Phenylketonuria (PKU) is a genetic metabolic disorder that increases the body's levels of phenylalanine. Phenylalanine is one of the building blocks (amino acids) of proteins. Humans cannot make phenyalanine, but it is a natural part of the foods we eat. However, people do not need all the phenyalanine they eat, so the body converts...National Center for Advancing Translational Sciences
-
Phenylketonuria (PKU) is an autosomal-recessive inborn error of amino acid metabolism characterized by elevated (typically >10 mg/dL) blood phenylalanine (phe), which, if untreated, results in mental retardation, seizures, and eczema. Patients with elevated blood phe below the threshold for requiring treatment are referred to as having...Athenahealth, Inc., 2019
-
Phenylketonuria (PKU), hereditary inability of the body to metabolize the amino acid phenylalanine. Phenylalanine is normally converted in the human body to tyrosine, another amino acid, by a specific organic catalyst, or enzyme, called phenylalanine hydroxylase. This enzyme is not active in...Encyclopedia Britannica, Inc., 2020
Return to OpenMD Medical Dictionary
> P
This content should not be used in place of medically-reviewed decision support reference material or professional medical advice. Some terms may have alternate or updated definitions not reflected in this set. The definitions on this page should not be considered complete or up to date.