Article
Newborn mass screening and molecular genetics of phenylketonuria in east Asia.
The Southeast Asian journal of tropical medicine and public health - 1 Jan 1995
Okano Y, Isshiki G
Abstract excerpt
Phenylketonuria (PKU) is an autosomal recessive disorder caused by a deficiency of hepatic phenylalanine hydroxylase (PAH), and is performed with newborn mass screening. PKU causes irreversible mental retardation that can be prevented by a strict low-phenylalanine diet. More than 100 different mu...
Topics
- Alleles
- Amino Acid Sequence
- Arginine
- Base Sequence
- Exons
- Asia, Eastern
- Galactosemias
- Genes, Recessive
- Genetics, Population
- Humans
- Incidence
- Infant, Newborn
- Liver
- Mass Screening
- Molecular Sequence Data
- Mutation
- Phenylalanine Hydroxylase
- Phenylketonurias