acid-phosphatase and Fabry-Disease

Topics: Acid Phosphatase; Animals; Cathepsins; Chediak-Higashi Syndrome; Fabry Disease; Inflammation; Keratins; Langerhans Cells; Light; Lysosomes; Melanophores; Microscopy, Electron; Peptide Hydrolases; Phagocytosis; Pigmentation; Protease Inhibitors; Sebaceous Glands; Skin; Skin Diseases; Skin Neoplasms; Vitamin A

Nine lysosomal enzyme activities were examined in granulocytes and lymphocytes from two unrelated patients with Chediak-Higashi syndrome (CHS) in "accelerated phase" and from their family members. In CHS granulocytes, there was a marked reduction of alpha-mannosidase (E.C. 3.2.1.24), alpha-galactosidase (E.C. 3.2.1.22), and alpha-fucosidase (E.C. 3.2.1.51) activities, which were below 21, 24, and 43% of mean control values, respectively. In CHS lymphocytes, beta-glucuronidase (E.C. 3.2.1.31) and alpha-mannosidase activities were also decreased. In granulocytes of family members, the activities of acid phosphatase (E.C. 3.1.3.2), N-acetyl-beta-glucosaminidase (E.C. 3.2.1.30), aryl sulphatase (E.C. 3.1.6.1), and beta-glucuronidase were significantly higher than the control values (P < 0.001), which were 262, 218, 414, and 180% of mean control values. Neither the inhibitor in CHS granulocytes nor the activator in the heterozygous granulocytes to those enzymes could be found by mixing experiments with normal ones.

Topics: Acetylglucosaminidase; Acid Phosphatase; alpha-L-Fucosidase; Arylsulfatases; Chediak-Higashi Syndrome; Child, Preschool; Fabry Disease; Female; Glucuronidase; Granulocytes; Heterozygote; Humans; Infant; Lymphocytes; Lysosomes; Male; Mannosidases

Topics: Acid Phosphatase; alpha-Galactosidase; Fabry Disease; Female; Genetic Carrier Screening; Hair; Humans; Male; Specimen Handling

A method of assay alpha-galactosidase and acid phosphatase activities in single hair roots is described. Enzyme histochemical studies show that the distribution of acid phosphatase in the human hair root matches that of alpha-galactosidase. Histochemically, the main activity is located in the upper part of the sheath near the orifice of the duct of the sebaceous gland. This is confirmed by enzyme assays on different parts of the hair root after dissection. The variation in the values found in individual hair roots is improved by relating alpha-galactosidase to acid phosphatase activities. Storage experiments indicate a remarkable stability of both alpha-galactosidase and acid phosphatase in human hair roots.

Topics: Acid Phosphatase; alpha-Galactosidase; Animals; Fabry Disease; Galactosidases; Hair; Haplorhini; Heterozygote; Histocytochemistry; Humans; Macaca mulatta; Methods; Skin; Specimen Handling

Topics: Acid Phosphatase; Animals; Cathepsins; Chediak-Higashi Syndrome; Cyclic AMP; Dermatitis; Fabry Disease; Humans; Keratins; Lupus Erythematosus, Systemic; Lysosomes; Psoriasis; Skin; Ultraviolet Rays; Vacuoles; Vitamin A Deficiency

Lymphocytes, monocytes, neutrophilic granulocytes and platelets were each separated to greater than 95% purity from six normal subjects, three patients with Gaucher's disease, two heterozygotes for Gaucher's disease, and one patient with Fabry's disease. Activities of the following acid hydrolases were determined: "acid" (pH 4.0) beta-glucosidase, pH 5.0 beta-glucosidase, alpha-galactosidase, alpha-arabinosidase, alpha-mannosidase, alpha-glucosidase, beta-glucuronidase, beta-galactosidase, beta-hexosaminidase, and acid phosphatase. Enzymatic activity varied greatly with cell type and the enzyme being measured; the importance of assaying pure preparations especially for heterozygote detection is emphasized. Gaucher's disease patients' cells were found to be deficient in the pH 4.0 acid beta-glucosidase, variable in the pH 5.0 beta-glucosidase, and normal in all other acid hydrolases tested, including acid phosphatase, the activity of which is known to be elevated in plasma. Blood cells of a patient with Fabry's disease were deficient in alpha-galactosidase and normal in all other acid hydrolases tested.

Topics: Acid Phosphatase; Blood Platelets; Fabry Disease; Galactosidases; Gaucher Disease; Glucosidases; Glucuronidase; Glycoside Hydrolases; Granulocytes; Hexosaminidases; Humans; Hydrogen-Ion Concentration; Leukocytes; Lymphocytes; Lysosomes; Mannosidases; Monocytes

Angiokeratoma corporis diffusum (Fabry disease) is an X-linked recessive disease. We had an opportunity to examine a heterozygous female patient with angiokeratoma and cornea verticillata. The patient's serum alpha-galactosidase activity was reported to be about 50% of normal. Skin lesion biopsy specimens were stained with electron microscopic acid phsophatase (ACP), with proper controls. Acid phosphatase activity was demonstrable within membrane-bound inclusions of cutaneous vascular endothelial cells. This suggested that the accumulation of abnormal glycolipids in the vascular cells occurs in the lysosomes.

Topics: Acid Phosphatase; Adult; Corneal Diseases; Fabry Disease; Female; Histocytochemistry; Humans; Inclusion Bodies; Lysosomes; Microscopy, Electron; Skin