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The influence of mutations of enzyme activity and phenylalanine tolerance in phenylalanine hydroxylase deficiency.

Abstract：

:The phenylalanine hydroxylase (PAH) deficiency trait is heterogeneous with a continuum of metabolic phenotypes ranging from classical phenylketonuria (PKU) to mild hyperphenylalaninaemia (MHP). More than 200 mutations in the PAH gene are associated with PAH deficiency. From theoretical considerations or in vitro expression studies each mutation has a particular influence on enzyme activity, which explains the variation in dietary tolerance for phenylalanine (Phe). This paper gives a summary of the effect of each type of mutation on PAH activity and illustrates how the combination of mutations (the genotype) is associated with the Phe tolerance (the metabolic phenotype). Mutations within a population generally include a few prevalent mutations and a high number of rare mutations. The particular distribution of mutations implies that many PAH-deficient patients carry the same mutation combination, enabling the establishment of genotype-phenotype correlations by comparing clinical parameters in patients with identical genotypes. Because certain mutations always cause MHP irrespective of the mutation on the second allele, mutation typing of hyperphenylalaninaemic neonates will differentiate between PKU and MHP. In addition, genotyping will provide a tool for precise diagnosis of the metabolic phenotype of the neonate with PKU and thereby permit earlier implementation of dietary therapy better tailored to each individual patient.

journal_name

Eur J Pediatr

journal_title

European journal of pediatrics

authors

Güttler F,Guldberg P

doi

10.1007/pl00014253

subject

Has Abstract

pub_date

1996-07-01 00:00:00

pages

S6-10

eissn

0340-6199

issn

1432-1076

journal_volume

155 Suppl 1

pub_type

杂志文章,评审

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