- classic phenylketonuria
Medical dictionary. 2011.
Medical dictionary. 2011.
Phenylketonuria — PKU redirects here. For other uses, see PKU (disambiguation). Phenylketonuria Classification and external resources ICD 10 E70.0 ICD 9 … Wikipedia
phenylketonuria — phenylketonuric, adj. /fen l kee toh noor ee euh, nyoor , feen /, n. Pathol. an inherited disease due to faulty metabolism of phenylalanine, characterized by phenylketones in the urine and usually first noted by signs of mental retardation in… … Universalium
phenylketonuria — Autosomal recessively inherited inborn error of metabolism of phenylalanine characterized by deficiency of 1) phenylalanine hydroxylase [MIM*261600] caused by mutation in the phenylalanine hydroxylase gene ( … Medical dictionary
Compound heterozygosity — in medical genetics is the condition of having two heterogeneous recessive alleles at a particular locus that can cause genetic disease in a heterozygous state. Compound heterozygosity reflects the diversity of the mutation base for many… … Wikipedia
Список наследственных заболеваний — Список генетических заболеваний Основные статьи: наследственные заболевания, Наследственные болезни обмена веществ, Ферментопатия. В большинстве случаев приведен также код, указывающий на тип мутации и связанные с ней хромосомы. См. также система … Википедия
metabolic disease — ▪ pathology Introduction any of the diseases or disorders that disrupt normal metabolism, the process of converting food to energy on a cellular (cell) level. Thousands of enzymes participating in numerous interdependent metabolic pathways… … Universalium
genetic disease, human — Introduction any of the diseases and disorders that are caused by mutations in one or more genes (gene). With the increasing ability to control infectious and nutritional diseases in developed countries, there has come the realization … Universalium
genetics — /jeuh net iks/, n. (used with a sing. v.) 1. Biol. the science of heredity, dealing with resemblances and differences of related organisms resulting from the interaction of their genes and the environment. 2. the genetic properties and phenomena… … Universalium
heredity — /heuh red i tee/, n., pl. heredities. Biol. 1. the transmission of genetic characters from parents to offspring: it is dependent upon the segregation and recombination of genes during meiosis and fertilization and results in the genesis of a new… … Universalium
Disease — Illness or sickness often characterized by typical patient problems (symptoms) and physical findings (signs). Disruption sequence: The events that occur when a fetus that is developing normally is subjected to a destructive agent such as the… … Medical dictionary