J Schram | PubMed Health

PubMed1981

Biochemical screening for inherited metabolic disorders in the mentally retarded.

A biochemical screening programme for the detection of inherited metabolic disease was carried out on urine and blood samples from inmates of the Alexandra Institute for the mentally retarded, Cape Town. Of the 1087 patients screened, positive results for phenylketonuria were obtained in 3, for cystinuria in 2 and for Hartnup disease in 1. The overall frequency of metabolic disorders was 0,6%. It is evident that genetic metabolic disease as detected by current screening procedures makes only a small contribution to the overall burden of mental retardation.

Adult↗

PubMedDate not supplied

Immunoglobulin E in chronic middle ear effusions.

A total of 61 middle ear effusions and matched sera obtained from patients suffering from chronic otitis media with effusions (OME) was examined for IgE and other immunoglobulins to see if a reaginic antibody is involved in OME. The IgE levels were determined by the Phadebas IgE radioimmunoassay test. Excluding one patient who had extremely high IgE as a result of parasitosis, there were only three cases which showed marginally increased serum IgE levels. Elevated IgE levels in sera and/or in effusions were unrelated to a history of allergy. The mucoid effusions had significantly higher effusion levels than the levels in corresponding sera (p less than .0005). Fourteen percent of the cases examined showed effusion IgE levels five times or more higher than serum levels. Biopsy specimens of these patients showed numerous degranulating mast cells. Only two specimens showed eosinophilic infiltration. It is suggested that the IgE is produced locally by the mucosa in mucoid-type effusions and may have been involved in mast cell degranulation. However, this study cannot confirm the allergic nature of the OME.

Adolescent↗