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phenylketonuria
(redirected from hyperphenylalaninemia)

    Also found in: Medical, Encyclopedia, Wikipedia 0.01 sec.

phenylketonuria

Inherited metabolic condition in which the liver cannot control the level of phenylalanine (an amino acid derived from protein food) in the bloodstream. The condition must be detected promptly and a special diet started in the first few weeks of life if brain damage is to be avoided. Untreated, it causes stunted growth, epilepsy, and severe mental disability.

The ‘heel prick’ test has been used routinely since the 1970s to detect the disorder in newborn children. It was the first screening for a genetic disease to be introduced.



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? Mentioned in ? References in periodicals archive
 
Hyperphenylalaninemia is a condition that looks like PKU on the initial test result but does not lead to mental retardation.
Assessing the new criteria for newborn screening by Botkin, Jeffrey R. / Health Matrix
Research Institute, stated, "This is an important first step to address a long-standing need for a subset of patients with PKU or hyperphenylalaninemia.
BIOMARIN ACCELERATES DEVELOPMENT OF PHENOPTIN FOR PKU by Biotech Business
Currently, Suntory markets several products such as an antiarrythmic agent called SUNRYTHM(TM); the recombinant form of interferon gamma-1a called BIOGAMMA(TM); an atypical hyperphenylalaninemia agent called BIOPTEN(TM) and the first pharmaceutical preparation in the world of human
Suntory Ltd. and ICOS Corp. announce the formation of a joint venture ... by Business Wire
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