phenylketonuria

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phen·yl·ke·to·nu·ri·a

 (fĕn′əl-kēt′n-o͝or′ē-ə, -yo͝or′-, fē′nəl-)
n. Abbr. PKU
A genetic disorder in which the body lacks the enzyme necessary to metabolize phenylalanine to tyrosine. Left untreated, the disorder can cause brain damage and progressive intellectual disability as a result of the accumulation of phenylalanine and its breakdown products.

[phenylketone, the class of organic compounds including phenylpyruvic acid, a breakdown product of phenylalanine that is abnormally abundant in the urine of those having the disorder (phenyl + ketone) + ur(o)- + -ia.]

phen′yl·ke′to·nu′ric adj. & n.

phenylketonuria

(ˌfiːnaɪlˌkiːtəˈnjʊərɪə)
n
(Pathology) a congenital metabolic disorder characterized by the abnormal accumulation of phenylalanine in the body fluids, resulting in various degrees of mental deficiency
[C20: New Latin; see phenyl, ketone, -uria]

phen•yl•ke•to•nu•ri•a

(ˌfɛn lˌki toʊˈnʊər i ə, -ˈnyʊər-, ˌfin-)

n.
an inherited defect of the ability to metabolize phenylalanine, requiring a diet free of or low in phenylalanine to avoid eczema, mental retardation, and other effects.
[1935]
ThesaurusAntonymsRelated WordsSynonymsLegend:
Noun1.phenylketonuria - 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
inborn error of metabolism - any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism
Translations

phen·yl·ke·to·nu·ri·a

[MIM*261600]
n. fenilquetonuria, trastorno metabólico genético que puede causar una deficiencia mental.

phenylketonuria (PKU)

n fenilcetonuria