Gaucher's disease: a clinical, morphological and biochemical study of a Nigerian family.
Two Nigerian sibling presented with progressive hepato-splenomegaly in infancy from which they subsequently died. Morphological investigations carried out showed that the children had Gaucher's disease. Leucocyte B-glucocerebrosidase activities from the parents of the two siblings and also from one surviving sibling were found to be only about 50% of the enzyme activities in control subjects while hexosaminidase and B-glucuronidase activities were within normal limits. There results showed that the three surviving relatives are heterozygotes and also provided a strong supporting evidence that the deceased children had Gaucher's disease. The occurence of this disease in African children living in Kenya, Uganda, the Congo and Nigeria, and in Black Americans suggest that this biochemical abnormality is not as rare in the Negroid race as has been believed hitherto, and may be widespread on the African continent.
D000135:Acid Phosphatase / Q000378:metabolism; D001706:Biopsy; D005776:Gaucher Disease / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D006596:Hexosaminidases / Q000378:metabolism; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000175:diagnosis; D007962:Leukocytes / Q000201:enzymology; D008099:Liver / Q000473:pathology; D008297:Male; D008854:Microscopy, Electron; D001617:beta-Glucosidase / Q000378:metabolism
D000135:Acid Phosphatase; D006596:Hexosaminidases; D001617:beta-Glucosidase