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Phenylketonuria Definition: Phenylketonuria (PKU) is a genetic disorder that is characterized by an inability of the body to utilize the essential amino acid, phenylalanine.henylketonuria Definition: Phenylketonuria (PKU) is a genetic disorder that is characterized by an inability of the body to utilize the essential amino acid, phenylalanine.
Phenylketonuria. Phenylketonuria is inherited and is a metabolic disorder that causes a musty odor in the child's body. This disorder can cause intellectual and developmental disabilities due to the body not being able to process a portion of the protein phenylalanine. child with body odor can feel isolated and depressed. If you have noticed an odor that your child carries, it may not be as superficial a problem as you suspect. Many disorders exist that can be the cause of a prepubescent child possessing body odor and the problem needs to be addressed.