Marked elevation of serum angiotension-converting enzyme and hepatic fibrosis containing long-spacing collagen fibrils in type 2 acute neuronopathic Gaucher's disease.
Serum angiotensin-converting enzyme in a patient with type 2 acute neuronopathic Gaucher's disease (242 nmol/min/ml) was 10.8 times higher than values for eight patients with other hereditary neurologic abnormalities (22.5 +/- 2.0) and 9.4 times higher than those for 12 patients with other diseases (25.7 +/- 2.6) (P less than 0.001). Serum lysozyme was not elevated in the patient with type 2 Gaucher's disease. These results indicate that elevated serum angiotensin-converting enzyme in an infant with neurologic involvement and hepatosplenomegaly is suggestive of the possibility of type 2 Gaucher's disease. Typical Gaucher's cells and fibrosis were observed by light and electron microscopy of the liver. An aspect hitherto unreported in Gaucher's disease or in the liver was that approximately 20% of the collagen fibrils were of the long-spacing type, with periodicity of 1,000 to 1,100 A and diameters of 900 to 1,500 A.
D000208:Acute Disease; D005776:Gaucher Disease / Q000201:enzymology* / Q000473:pathology; D006801:Humans; D007223:Infant; D008099:Liver / Q000473:pathology*; D008297:Male; D009113:Muramidase / Q000097:blood; D007703:Peptidyl-Dipeptidase A / Q000097:blood*
D009113:Muramidase; D007703:Peptidyl-Dipeptidase A