acid-phosphatase and Cystinosis

Topics: Acid Phosphatase; Alkaline Phosphatase; Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Catalase; Cell Line; Culture Techniques; Cystic Fibrosis; Cystinosis; Diffuse Cerebral Sclerosis of Schilder; Humans; Immunologic Deficiency Syndromes; Leukocytes; Lipid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Methods; Mucopolysaccharidoses; Mucopolysaccharidosis IV; Muscular Dystrophies; Myotonia; Refsum Disease; Skin

Topics: Acid Phosphatase; Biopsy; Conjunctiva; Cystine; Cystinosis; Histocytochemistry; Humans; Lysosomes; Microscopy, Electron

Electron microscopic examination of a biopsy specimen of cystinotic lymph node demonstrated that cystine crystals were entirely intracellular, and that the majority, including those of the largest size, were enclosed by intact limiting membranes. Acid phosphatase activity was localized specifically at the periphery of the crystal profiles and the smallest crystal aggregates were contained in osmophilic dense bodies which had the appearance of progressively swollen lysosomes. The implications of the suggested lysosomal distribution of cystine are discussed.

Topics: Acid Phosphatase; Child, Preschool; Cystine; Cystinosis; Histocytochemistry; Humans; Lymph Nodes; Lysosomes; Male; Microscopy, Electron

In patients with cystinosis, the concentration of free cystine in leukocytes was 80 times greater than normal, and six times the normal content for their parents. This is the first demonstration of an abnormality in heterozygotes for this rare inherited disease of childhood. Three-quarters of the cystine was recovered in the granular fraction of cystinotic leukocytes.

Topics: Acid Phosphatase; Cell Nucleus; Cysteine; Cystine; Cystinosis; Cytoplasmic Granules; Ethylmaleimide; Humans; Leukocytes; Molecular Biology