Definition of Phenylketonuria

1. Noun. 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.

Exact synonyms: Pku
Generic synonyms: Inborn Error Of Metabolism



Definition of Phenylketonuria

1. Noun. (medicine) A metabolic disorder in which individuals lack the liver enzyme phenylalanine hydroxylase (''PAH'') which is needed to metabolize the amino acid phenylalanine. ¹

¹ Source: wiktionary.com

Definition of Phenylketonuria

1. [n -S]

Medical Definition of Phenylketonuria

1. Congenital absence of phenylalanine hydroxylase (an enzyme that converts phenylalanine into tyrosine). Phenylalanine accumulates in blood and seriously impairs early neuronal development. The defect can be controlled by diet and is not serious if treated in this way. Incidence: highest in Caucasians. Acronym: PKU Origin: Gr. Ouron = urine (15 Oct 1997)

Phenylketonuria Pictures

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Lexicographical Neighbors of Phenylketonuria

phenylhydrazines
phenylhydrazone
phenylhydrazones
phenylhydroxylamine
phenylhydroxylamines
phenylic
phenylic acid
phenylindanedione
phenylindole
phenylindoles
phenylisopropyladenosine
phenylisopropyladenosines
phenylisopropylamine
phenylisothiocyanate
phenylisothiocyanates
phenylketonuria (current term)
phenylketonurias
phenylketonuric
phenyllactic acid
phenylmagnesium bromide
phenylmercurial
phenylmercuric
phenylmercuric acetate
phenylmercuric nitrate
phenylmercuries
phenylmercury
phenylmercury compounds
phenylmethane
phenylmethyl
phenylmethylsulfonyl

Literary usage of Phenylketonuria

Below you will find example usage of this term as found in modern and/or classical literature:

1. Guide To Clinical Preventive Services by U. S. Preventive Services Task Force (1989)
"Fifteen-year experience with screening for phenylketonuria with an automated fluorometric method Am J Hum Genet 1982; 34:743-52. 2. Walker V. Clayton BE, ..."

2. Guide to Clinical Preventive Services: Report of the U. S. Preventive by DIANE Publishing Company (1996)
"Loss of intellectual function in children with phenylketonuria after relaxation of ... Neurological deterioration in young adults with phenylketonuria. ..."

3. Genetic Information and Health Care: Hearing Before the Committee on Labor edited by James M. Jeffords (2001)
"When a newborn is screened for phenylketonuria, for instance, they do not look at the gene for phenylketonuria; they look to see whether the levels of ..."

4. Clinician's Handbook of Preventive Services: Put Prevention Into Practice by DIANE Publishing Company (1995)
"Newborn Screening Newborn screening for congenital hypothyroidism and phenylketonuria (PKU) is required in virtually all states. ..."

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