Article
[Genetical heterogeneity of phenylketonuria].
Voprosy meditsinskoi khimii - 1 Jan 2000
Annenkov G A
Abstract excerpt
Data on genetic nature of phenylketonuria molecular mechanisms of its pathogenesis and approaches to treatment and prophylaxis of the disease are reviewed. Genetic heterogeneity of phenylketonuria, dependent on polylocus control of phenylalanine hydroxylase complex, is considered in detail. A possibility is discussed of the existence of the genetically different forms of phenylketonuria. Data on the molecular...
Topics
- Animals
- Chemical Phenomena
- Chemistry
- Child, Preschool
- Coenzymes
- Genes
- Homozygote
- Humans
- Infant
- Infant, Newborn
- Isoenzymes
- Mutation
- Phenylalanine