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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.
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.
Lexicographical Neighbors of Phenylketonuria
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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