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.

Hyperglycinaemia without ketosis.

When screening mentally backward children we detected a 5-year-old child with elevated urinary glycine excretion and a high blood glycine level. The report discusses the results of a clinical, metabolic and genetic examination of the child and the members of his family with reference to this rare metabolic disorder.