PKU locus: genetic linkage with human amylase (Amy) loci and assignment to linkage group I.

The linked alpha-amylase loci Amy 1 and Amy 2 were evaluated for their linkage relationship to the PKU locus using data collected from two (one Czech and one Polish) groups of families. The five sibships informative for Amy 1:PKU give a z score of 1.505 at theta = 0.00 and the eight sibships informative for Amy 2:PKU give a z score of 2.709 at theta = 0.00. Due to the tandem position of Amy 1 and Amy 2 loci, these data could be combined, and linkage between Amy and PKU loci established with a z score 4,214 at theta = 0.00. The practical significance of the linkage, especially for identifying PKU allele carriers, is emphasized.

[Convulsions in phenylketonuria and the pattern of the bioelectric activity of the brain]. / Zagadnienie napadów dragawkowych w fenyloketonurii obraz czynnosci bioelektrycznej mózgu.

Serial EEC investigations were carried out in 30 children with phenylketonuria aged 8 months to 4 years at the time of dietary treatment. All children had seizures. The results of EEG investigations in this group of children were compared with a preciously observed analogous of 35 children without convulsions. Comparing the results of EEG investigations in both groups it was observed that in the group of children without convulsions the initial EEG tracings were mostly normal while in both groups the abnormalities were mostly of paroxysmal type. On the ground of an analysis of the EEG results of both groups of children during the whole observation period lasting 2 to 7 years no statistically significant differences were observed in the pattern of bioelectric activity of the brain in both groups. In the light of this material homogenous from the standpoint of aetiology and pathogenesis the asuthors postulated the necessity of verification of the presently accepted principles of diagnosis and classification of infantile convulsions based on diagnostic and prognostic significance of EEG investigations.

[Seizures in phenylketonuria]. / Zagadnienie napadów drgawkowych w fenyloketonurii. Spostrzezenia kliniczne.

In a group of 90 children with phenylketonuria diagnosed and treated late the authors studied the problem of seizures. They occurred in over 50% of children, in most of them they had the character of salaam seizures (72%). They were statistically significantly more frequent in children with more severe mental retardation. In the discussion on these observations the authors stated that the data obtained by them concerning the frequency of seizures (twice as frequent as in materials reported in the literature) were based on long-term observation of these children and not on one examination and they conform better to the actual incidence of these seizures. It is supposed that the presence of seizures is a prognostically unfavourable element. It is suggested also that these children should be given anticonvulsant treatment besides dietary treatment of phenylketonuria.