A highly inbred family with five mentally retarded persons is described. Two sibs presented typical characteristics of phenylketonuria, while one mentally retarded sib did not show any biochemical abnormality. The mother and maternal uncle had mild hyperphenylalaninemia.
It is pointed out in the discussion that, while the mental retardation (at least in some of these subjects) may be independent of disturbances of phenylalanine metabolism, it is possible also to explain all the findings in the family on a unified basis, involving a variant hyperphenylalaninemia with tolerance increasing with age and "maternal phenylketonuia."
Seven children with cystic fibrosis (CF) have been treated for at least one year with intravenously administered soya oil emulsion. In all, an improvement of at least one biochemical abnormality in character with the disease appeared. The children's clinical course remains benign. This course is remarkably better than that of other children with CF treated without Intralipid in Auckland in the same period, though a placebo effect cannot be discounted.
It is postulated that intravenous supplementation with essential fatty acid in CF may in turn partially correct an error of metabolism of prostaglandins present in the disease.
A thiol proteinase inhibitor, E-64-d, corrects the abnormalities in concanavalin A cap formation and the lysosomal enzyme activity in leucocytes from patients with Chediak-Higashi syndrome by reversing the down-regulated protein kinase C activity