Possibilities for the cytochemical diagnosis of enzymopathies.
The authors review the contemporary uses of histochemistry for the diagnosis of enzymopathies. Enterokinase, lactase, sucrase and trehalase deficiency can be diagnosed by histochemical methods. In glycogenoses, glycogen storage and glucose-6-phosphatase, acid alpha-glucosidase and phosphorylase deficiencies can be demonstrated. In mucopolysaccharidoses, the accumulation of acid muco-substances and changes in lysosomal enzyme activities can be demonstrated.
D001706:Biopsy; D004796:Clinical Enzyme Tests; D006651:Histocytochemistry; D006801:Humans; D006867:Hydrolases / Q000172:deficiency*
D006867:Hydrolases