Engelsk substantiv: phenylketonuria | |||
1. | phenylketonuria (om tilstand) 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 | ||
Ord med samme betydning (synonymer) | PKU | ||
Mindre spesifikke uttrykk | inborn error of metabolism | ||