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  • noun

Synonyms for phenylketonuria

a genetic disorder of metabolism


References in periodicals archive ?
Consensus about the diagnosis and treatment of hyperphenylalaninemia (in Chinese).
One of the four infants (25%) had a Phe level of above 20 mg/dl (classic PKU) and three infants (75%) had serum phenylalanine levels between 2 and 20 mg/dl, showing mild hyperphenylalaninemia.
The drug is the first and only FDA-approved medication for PKU to reduce blood phenylalanine (Phe) levels in patients with hyperphenylalaninemia (HPA) due to tetrahydrobiopterin- (BH4-) responsive phenylketonuria (PKU).
Some suggestions for improving the site included providing more information about hyperphenylalaninemia and links to sites with practical advice regarding management of PKU.
Long-term correction of hyperphenylalaninemia by AAV-mediated gene transfer leads to behavioral recovery in phenylalanine mice.
2002) showed that administration of melatonin to hyperphenylalaninemia female rats prevented the oxidative damage in the pup rat brain and cerebellum.
Safety and efficacy study of Phenoptin in subjects with hyperphenylalaninemia due to BH4 deficiency.
Five children (7%) had a milder form of PKU, hyperphenylalaninemia, requiring blood test monitoring and some reduction in protein intake but no dietary supplement.
Scriver, MDCM, Alva Professor Emeritus of Human Genetics at McGill University, Montreal Children's Hospital Research Institute, stated, "This is an important first step to address a long-standing need for a subset of patients with PKU or hyperphenylalaninemia.
Even though the treatment (timing, degree, and duration) is important in determining IQ among people with hyperphenylalaninemia, there is a separate influence of the genotype on cognitive development.
They assessed behavior and perceptual, memory, motor, and -language skills in 253 4-year-olds; 149 had been born to mothers with phenylketonuria (PKU), 33 to mothers with untreated mild hyperphenylalaninemia, and 71 to mothers in a control group.
In a study, they assessed behavior and perceptual, memory motor, and language skills in 253 4-year-olds; 149 had been born to mothers with PKU, 33 to mothers with untreated mild hyperphenylalaninemia, and 71 to a control group.
Maternal phenylketonuria and hyperphenylalaninemia.
They suggested 31 disorders [lysosomal storage diseases (LSDs) are considered together and PKU and benign hyperphenylalaninemia are counted separately] to be considered in the expansion of NBS programs in the EU.
Synthesis of a phenylalanine imprinted polymer for attenuation of phenylalanine absorption via the gut in a murine hyperphenylalaninemia model.