The word phenylketonuria uses combining forms of phenyl + ketone + -uria; it is pronounced /ˌfiːna?lˌkiːt?ˈnj??ri?, ˌf?n-, -n?l-, -n?l-, -to?-/.Click to see full answer. Considering this, what causes phenylketonuria? Causes of phenylketonuria PKU is an inherited condition caused by a defect in the PAH gene. The PAH gene helps create phenylalanine hydroxylase, the enzyme responsible for breaking down phenylalanine. A dangerous buildup of phenylalanine can occur when someone eats high-protein foods, such as eggs and meat.Also Know, what does PKU mean? Phenylketonuria (fen-ul-key-toe-NU-ree-uh), also called PKU, is a rare inherited disorder that causes an amino acid called phenylalanine to build up in the body. PKU is caused by a defect in the gene that helps create the enzyme needed to break down phenylalanine. One may also ask, how do you pronounce Klinefelter syndrome? Klinefelter syndrome -1. Hyphenation. [American] K-line-fel-ter syn-drome. [British] Kline-fel-ter syn-drome. K-line-felt-er syn-drome. How is phenylketonuria inherited?PKU is inherited in families in an autosomal recessive pattern. Autosomal recessive inheritance means that a person has two copies of the gene that is altered. Usually, each parent of an individual who has PKU carries one copy of the altered gene. Gene alterations (mutations) in the PAH gene cause PKU.

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