| hyperphenylalaninaemia | The presence of abnormally high blood levels of phenylalanine, which may or may not be associated with elevated tyrosine levels, in newborn infants (premature and full-term), associated with the heterozygous state of phenylketonuria, maternal phenylketonuria, or transient deficiency of phenylalanine hydroxylase or p-hydroxyphenylpyruvic acid oxidase. (05 Mar 2000) |
|---|
| malignant hyperphenylalaninaemia | DHPR-deficient form; an inherited disorder in which there is an absence or deficiency of dihydropteridine reductase (DHPR); this results in impaired regeneration of tetrahydrobiopterin, causing an elevation in phenylalanine levels, GTP-CH form; an inherited disorder in which there is a deficiency of guanosine triphosphate cyclohydrolase, an enzyme used in the biosynthesis of tetrahydrobiopterin, 6-PTS form; an inherited disorder in which there is a deficiency of 6-pyruvoyl tetrahydropterin synthase, an enzyme that participates in the biosynthesis of tetrahydrobiopterin. Synonym: nonclassical phenylketonuria. (05 Mar 2000) |
|---|---|
| non-PKU hyperphenylalaninaemia | A benign phenotype in which phenylalanine monooxygenase is deficient but is greater than 1% of normal levels. (05 Mar 2000) |