phenylketonuria

How To Use phenylketonuria In A Sentence

• Several diseases are directly caused due to single nucleotide changes such as thalassaemia, muscular dystrophy, phenylketonuria, long QT syndrome, familial hypertrophic cardiomyopathy etc.
• Newborn screening was pioneered in the 1940s by Robert Guthrie, who, having developed a simple blood test for a form of mental retardation called phenylketonuria PKU, proposed the newborn heel stick test to test for PKU and other “inborn errors of metabolism.” The $1,000 Genome
• Samples obtained through screening programme for phenylketonuria and congenital hypothyroidism.
• Objective To establish a simple, accurate and rapid method for screening of the mutant genes in phenylketonuria.
• A classic example of an autosomal recessive inborn error of metabolism is phenylketonuria.
• Organic acidopathies (propionic acidemia, methylmalonic acidemia, biotinidase deficiency, phenylketonuria (PKU) and other disorders) Biochemical Genetics-Metabolic Disease
• In terms of biochemical genetics, the consequences of a metabolic block may be rectified by dietary limitation of the precursor of an injurious accumulation product, aromatic amino acids in phenylketonuria; or by supplying the essential end product from without the cell, the specific blood protein in hemophilia, or a specific essential nutrient molecule such as a vitamin. Edward Tatum - Nobel Lecture
• For example, read: “Intellectual performance of 36 phenylketonuria patients and their nonaffected siblings” by Dobson, Kushida and Williams (1976) in Pediatrics volume 58, pages53 – 58. The Volokh Conspiracy » Some Scientists’ Openness to the Possibility of Genetic Differences in Mental Traits Among Racial and Ethnic Groups
• Years ago all babies were screened for a very rare condition called phenylketonuria PKU with a blood test. The Official Lamaze® Guide
• Persons with a rare hereditary disease known as phenylketonuria must control their phenylalanine intake from all sources, including Aspartame.