phenylketonuria(redirected from Deficiency disease, Phenylalanine Hydroxylase)
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Related to Deficiency disease, Phenylalanine Hydroxylase: Tyrosine hydroxylase
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.
(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-)
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.
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|Noun||1.||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
n. fenilquetonuria, trastorno metabólico genético que puede causar una deficiencia mental.