Subject(s)
Homozygote , Mutation , Oxidoreductases/deficiency , Oxidoreductases/genetics , Cell Line, Transformed , Cells, Cultured , Child , Child, Preschool , Dihydrouracil Dehydrogenase (NADP) , Female , Humans , Infant , Male , Netherlands , Pentoxyl/analogs & derivatives , Pentoxyl/blood , Pentoxyl/urine , Thymine/blood , Thymine/urine , Uracil/blood , Uracil/urineABSTRACT
Two children are reported, who became diseased at the age of 4 and 2 years, respectively, with progressive upper motor neuron symptoms leading to severe disability within a few years. The boy died at age 10 and autopsy disclosed a severe gangliolipidosis throughout the central nervous system, maximal in the brain stem and cerebrellum, corresponding with his early and dominantly bublar symptoms. The girl is still living, although severly disabled. The etiology was confirmed through biochemical studies which showed lower activity of galactosaminidase and galactosidase in frontal lobe tissue from the boy, in liver tissue from the girl. The activity of galactosaminidase A isoenzyme was more than 50 per cent lower in serum from the girl and in serum from healthy relatives of the boy, the father, mother and one of two brothers. Furthermore, the galactosidease activity was within or below the lower normal range limit in leucocytes from relatives of the boy with exception of the father. This abnormality was also encountered in serum from our girl patient.
