Phenylketonuria definition

Phenylketonuria means an inherited condition that, if not treated, may cause severe mental retardationHeritable disease
Phenylketonuria means an inherited condition that, if not treated, may cause severe mental retardation “Heritable disease”means an inherited disease that may result in mental or physical retardation or death.
Phenylketonuria means a congenital disorder characterized by abnormal phenylalanine metabolism due to defective phenylalanine hydroxylase activity.

Examples of Phenylketonuria in a sentence

  • Medical FoodsMedical Foods for inborn errors of metabolism such as Phenylketonuria (PKU) or when a Provider has diagnosed the presence of inadequate nutritional oral intake related to a medical condition or due to a progressive impairment of swallowing or digestion.

  • If undetected and untreated may cause severely impaired mental functioning.(13) "Hemoglobinopathy" means a hereditary blood dis- order caused by genetic alteration of hemoglobin which results in characteristic clinical and laboratory abnormalities and which leads to developmental impairment or physical disabilities.))(14) "Phenylketonuria" (PKU) means a deficiency of an enzyme necessary to convert the amino acid phenylalanine into tyrosine resulting in a buildup of phenylalanine in the blood.

  • A specimen/information form containing patient information is "Health care information" as defined by the Uniform Healthcare Information Act, RCW 70.02.010(6).(((12) "Phenylketonuria" (PKU) means a deficiency of an enzyme necessary to convert the amino acid phenylalanine into tyrosine resulting in a buildup of phenylalanine in the blood.


More Definitions of Phenylketonuria

Phenylketonuria means an inherited error in the metabolism of phenylalanine.
Phenylketonuria means an inherited condition that, if not treated, may cause severe mental retardation.
Phenylketonuria or "PKU" means an inherited disease caused by the body's failure to convert the amino acid phenylalanine to tyrosine due to defective enzyme function, which if not treated early in life, causes developmental disability.
Phenylketonuria. (PKU) means a deficiency of an enzyme necessary to convert the amino acid phenylalanine into tyrosine resulting in a buildup of phenylalanine in the blood. If undetected and untreated may cause severely impaired mental functioning.
Phenylketonuria or "PKU" means an inherited disease caused
Phenylketonuria means an inherited condition that, if not treated, may cause severe mental retardation. (V.T.I.C. Art. 3.79, Secs. 1(2), (3).)
Phenylketonuria means a congenital disorder character- ized by abnormal phenylalanine metabolism due to defec- tive phenylalanine hydroxylase activity.