Prenatal diagnosis of phenylketonuria and bilateral renal agenesis in a fetus

• Main Authors: Н. П. Веропотвелян (Author), Г. В. Макух (Author), Л. Б. Чорна (Author), Т. А. Нетребко (Author), Ю. С. Погуляй (Author), Е. О. Хаванская (Author)
• Format: Book
• Published: Publishing House TRILIST, 2018-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Phenylketonuria (PKU) is a congenital, genetically determined metabolic disorder of the essential amino acid phenylalanine (PA). PKU is caused by mutation in the phenylalanine hydroxylase gene (PAH). In different populations PKU affects about one in 8,000-15,000 newborns. PKU, as an orphan disease,...