Phenylketonuria

(noun)

an autosomal recessive metabolic genetic disorder characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase, rendering it nonfunctional.

Related Terms

Examples of Phenylketonuria in the following topics:

  • Phenylketonuria (PKU)

    • Phenylketonuria (PKU) is an autosomal recessive metabolic genetic disorder due to a mutation in the phenylalanine hydroxylasegene gene.
    • Phenylketonuria (PKU) is an autosomal recessive metabolic genetic disorder characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional.
    • PAH deficiency causes a spectrum of disorders, including classic phenylketonuria and hyperphenylalaninemia (a less severe accumulation of phenylalanine).

  • Intellectual Disabilities

    • The most prevalent genetic conditions include Down syndrome, Klinefelter's syndrome, fragile X syndrome (common among boys), neurofibromatosis, congenital hypothyroidism, Williams syndrome, phenylketonuria (PKU), and Prader-Willi syndrome.

  • Congenital Heart Defects

    • Known antenatal environmental factors that may lead to congenital heart defects include maternal infections (Rubella), drugs (alcohol, hydantoin, lithium, and thalidomide) and maternal illness (diabetes mellitus, phenylketonuria, and systemic lupus erythematosus).

  • RNA and Protein Synthesis

    • Such genetic diseases include Tay-Sachs, phenylketonuria (PKU), sickel cell anemia, achondroplasia, and Parkinson disease.