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[Farber's lipogranulomatosis. Apropos of a case].

A case of Farber's lipogranulomatosis is described in an 18 month-old girl. There was clinical evidence for diagnosis, which was confirmed by a ceramidase activity assay on cultured fibroblasts. A study of the conjunctiva by electron microscopy was performed. The authors emphasize the clinical and biological characteristics of such cases.

Amidohydrolases↗
PubMed1978

[Pathobiochemical aspects of lysosomal enzymes with special reference to lysosomal storage diseases (author's transl)].

Lysosomal hydrolases participate substantially in the degradation of all classes of biological macromolecules. They act physiologically within the lysosome. The enzymes are either primarily included within primary lysosomes or are transported to these cell organelles after secretion and subsequent adsorptive pinocytosis. The involvement of these enzymes in a variety of pathological conditions can be understood on the basis of the known functions of lysosomal hydrolases. Inactivity of one or several of the enzymes causes lysosomal storage disorders. Similar metabolic consequences are found when the enzymes are unable to be concentrated within the lysosome. Lysosomal hydrolases participate, furthermore, in the pathogenesis of numerous diseases. A distinction can be made between lysosomal overload, pathologically-increased enzyme secretion into the extracellular space, and a release of lysosomal enzymes into the cytosol.

Acid Phosphatase↗