Preliminary studies on the molecular basis of hyperphenylalaninemia in Egypt

Nemat Hashem, Paolo Bosco, Valeria Chiavetta, Francesco Calì, Nadia Ceratto, Valentino Romano

Research output: Contribution to journalArticlepeer-review


Mutation analysis at the phenylalanine hydroxylase (PAH) locus was undertaken in 56 Egyptian hyperphenylalaninemic patients, Selected screening for 11 known mutations and denaturing Gradient gel electrophoresis (DGGE) analysis of the entire coding sequence and exon/intron boundaries led to the identification of a new mutation (I224T), four previously described mutations, and several polymorphisms. Overall, 18 mutant alleles could thus be characterized. In contrast to the high mutation detection rate typical of the DGGE-based scanning approach, only 6 of 16 mutant alleles tested were identified. Since BH 4, deficiency could not be excluded in any of these patients, the latter results may be explained by the occurrence of mutations affecting the genes controlling the synthesis and recycling of tetrahydrobiopterin: the cofactor of PAH. An alternative hypothesis is also discussed.

Original languageEnglish
Pages (from-to)3-6
Number of pages4
JournalHuman Genetics
Issue number1
Publication statusPublished - Jul 1996

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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