| Pronunciation: | | `fenl`keet'nûreeu
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 WordNet Dictionary |
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| | Definition: | |
[n] 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 |
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PHENYLKETONURIA is a 15 letter word that starts with P. |
| | Synonyms: | | PKU |
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| | See Also: | | inborn error of metabolism |
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| Medical Dictionary |
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| | Definition: | | Inherited disease caused by lack of an enzyme necessary for converting phenylalanine into a form the body can use. |
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| Biology Dictionary |
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| | Definition: | | A genetic disorder (which is inherited through recessive genes) in which the body is unable to break down the amino acid phenylalanine. The resulting buildup of phenylalanine in the body causes mental retardation, mental disturbances, eczema (a skin disorder) and light skin pigmentation. The symptoms may be avoided if the disorder is diagnosed early enough in the newborn so that the child may be fed a diet low in phenylalanine. |
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| Glossary |
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| | Definition: | | a genetic disease, inherited as a recessive, brought about by the absence of the enzyme responsible for the conversion of the amino acid phenylalanine to tyrosine. Phenylalanine accumulates in the blood and then breaks down into by-products that cause severe mental retardation in addition to other symptoms. |
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