phenylketonuria (pku) a human disease characterized by mental retardation results from the
Phenylketonuria Phenylketonuria is a genetic disorder inherited from a person's parents.[1] It is due to mutations in the PAH gene, which results in low levels of the enzyme phenylalanine hydroxylase.[1] This results in the buildup of dietary phenylalanine to potentially toxic levels.[1] It is autosomal recessive, meaning that both copies of the gene must be mutated for the condition to develop.[1] There are two main types, classic PKU and variant PKU, depending on if any enzyme function remains.[1] Those with one copy of a mutated gene typically do not have symptoms.[1] Many countries have newborn screening programs for the disease.[3]
Pyuria Pyuria is the condition of urine containing white blood cells or pus. Defined as the presence of 6-10 or more neutrophils per high power field of unspun, voided mid-stream urine. It can be a sign of a bacterial urinary tract infection. Pyuria may be present in the people with sepsis, or in older people with pneumonia.