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Phenylketonuria is inherited in an autosomal recessive fashion. PKU is an autosomal recessive metabolic genetic disorder. As an autosomal recessive disorder, two PKU alleles are required for an individual to experience symptoms of the disease. For a child to inherit PKU, both parents must have and pass on the defective gene. [17]
Billy Connolly (born 1942), Scottish comedian and actor. [13] Neil Diamond (born 1941), American singer. [14] Frank Elstner (born 1942), German television moderator and entertainer [15] Ranulph Fiennes (born 1944), British explorer and writer. [16] Michael J. Fox (born 1961), Canadian-American actor.
Hyperphenylalaninemia is a medical condition characterized by mildly or strongly elevated concentrations of the amino acid phenylalanine in the blood. Phenylketonuria (PKU) can result in severe hyperphenylalaninemia. [2] Phenylalanine concentrations are routinely screened in newborns by the neonatal heel prick (Guthrie test), which takes a few ...
However, people who have phenylketonuria (PKU) have to be cautious with how much they're getting. PKU is a rare inherited genetic disorder that affects how the body processes phenylalanine.
Badr Shakir al-Sayyab (1926-1964), Iraqi poet. José Afonso (1929–1987), Portuguese singer-songwriter, revolutionist against the Estado Novo regime. [41] Gordon Aikman (1985–2017), British political researcher and motor neurone disease campaigner. [42] Frank Alamo (1941–2012), French singer.
Prader–Willi syndrome. Prader–Willi syndrome (PWS) is a rare genetic disorder caused by a loss of function of specific genes on chromosome 15. [2] In newborns, symptoms include weak muscles, poor feeding, and slow development. [2] Beginning in childhood, those affected become constantly hungry, which often leads to obesity and type 2 ...
245 880.10 g·mol −1. Pegvaliase, sold under the brand name Palynziq, is a medication used for the treatment of the genetic disease phenylketonuria. [5][9][10] It is a phenylalanine (Phe)‑metabolizing enzyme. [5] Chemically, it is a pegylated derivative of the enzyme phenylalanine ammonia-lyase that metabolizes phenylalanine to reduce its ...
Microcephaly. Microcephaly (from Neo-Latin microcephalia, from Ancient Greek μικρός mikrós "small" and κεφαλή kephalé "head" [2]) is a medical condition involving a smaller-than-normal head. [3] Microcephaly may be present at birth or it may develop in the first few years of life. [3]