Severity of mutation in the phenylalanine hydroxylase gene influences phenylalanine metabolism in phenylketonuria and hyperphenylalaninaemia heterozygotes.

doi:10.1007/BF00711621

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Article

Severity of mutation in the phenylalanine hydroxylase gene influences phenylalanine metabolism in phenylketonuria and hyperphenylalaninaemia heterozygotes.

Journal of inherited metabolic disease - 1 Jan 1994

Svensson E, Iselius L, Hagenfeldt L

Abstract excerpt

We examined whether the degree of residual activity from the mutant phenylalanine hydroxylase (PAH) allele affected phenylalanine metabolism in heterozygotes for phenylketonuria (PKU) or non-PKU hyperphenylalaninaemia (HPA). Discriminant analysis was carried out to find the function of fasting pl...

Topics

Adult
DNA
Female
Genotype
Heterozygote
Humans
Male
Mutation
Phenotype
Phenylalanine
Phenylalanine Hydroxylase
Phenylketonurias
Regression Analysis
Tyrosine

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