Article
Compound heterozygosity in nonphenylketonuria hyperphenylalanemia: the contribution of mutations for classical phenylketonuria.
American journal of human genetics - 1 Aug 1991
Avigad S, Kleiman S, Weinstein M, Cohen B E, Schwartz G, Woo S L, Shiloh Y
Abstract excerpt
Hyperphenylalaninemia (HPA) results from defective hydroxylation of phenylalanine in the liver, in most cases because of defective phenylalanine hydroxylase. HPA is highly variable, ranging from moderate elevation of plasma phenylalanine with no clinical consequences to a severe disease, classica...
Topics
- Amino Acid Metabolism, Inborn Errors
- Europe
- Female
- Genetic Carrier Screening
- Haplotypes
- Humans
- Infant, Newborn
- Israel
- Male
- Mutation
- Pedigree
- Phenylalanine
- Phenylketonurias
- Polymerase Chain Reaction