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PHENYLKETONURIA WITH NORMAL INTELLIGENCE
Author(s) -
Primrose D. A.
Publication year - 1983
Publication title -
journal of intellectual disability research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.941
H-Index - 104
eISSN - 1365-2788
pISSN - 0964-2633
DOI - 10.1111/j.1365-2788.1983.tb00296.x
Subject(s) - citation , library science , psychology , pediatrics , medicine , computer science
A review was made of the literature with respect to cases of untreated phenylketonuria (PKU) with normal intelligence. Six families were found in which a person with classical PKU and normal intelligence, and a sibling with PKU and severe mental handicap had been reported. Details are given of another similar family, and possible reasons are discussed for the preservation of intelligence in the affected individual with an IQ of 82. Among the reasons proposed are breast feeding, which has a low phenylalanine level and a raised biopterin level, which may help in the production of brain neurotransmitters. Studies of similar cases are suggested.