acid-phosphatase and Niemann-Pick-Diseases

Topics: Acid Phosphatase; Acid-Base Equilibrium; Chediak-Higashi Syndrome; Cytoplasm; Diffuse Cerebral Sclerosis of Schilder; Gaucher Disease; Genes, Recessive; Glycogen Storage Disease; Humans; Hydrolases; Lipidoses; Lysosomes; Metabolism, Inborn Errors; Niemann-Pick Diseases

Topics: Acid Phosphatase; Acyltransferases; Animals; Brain; Cattle; Chickens; Cholesterol; Chromatography, DEAE-Cellulose; Clostridium perfringens; Cricetinae; Dogs; Electrophoresis; Glycerides; Guinea Pigs; Humans; Hydrogen-Ion Concentration; Lipid Metabolism; Liver; Mycotoxins; Niemann-Pick Diseases; Phosphatidylcholines; Phospholipases; Phospholipids; Phosphoric Monoester Hydrolases; Rabbits; Rats; Sphingomyelins; Staphylococcus; Swine; Viruses

Topics: Acid Phosphatase; Adolescent; Adult; Age Factors; Brain; Cerebrosides; Child; Child, Preschool; Clinical Enzyme Tests; Diffuse Cerebral Sclerosis of Schilder; Female; Gaucher Disease; Glycoside Hydrolases; Humans; Infant; Leukocytes; Liver; Male; Niemann-Pick Diseases; Phospholipases; Sphingomyelins; Spleen; Sulfatases; Veins

A complex analysis of liver from a series of eight cases of Niemann-Pick disease type C showed practically generalized storage of glycolipids and phosphoglycerides by chemical and histochemical techniques. In six of the eight cases the storage process was of low degree, barely recognizable by routine histology, but well recognizable by histochemistry and electron-microscopy. In two cases it was marked and led to early functional impairment of the liver. Changes in various enzyme activities and in ultrastructural features of the storage process are described. Sphingomyelin was found to participate to a very low low degree and its accumulation was not proportional to the extent of overall storage. In two cases with prominent involvement of the liver normal levels of sphingomyelin were found. In other cases sphingomyelin was found, by lipid histochemistry, to be stored only in macrophages. To stress that the storage process in Niemann-Pick disease type C is qualitatively different a comparison was made with liver findings in sphingomyelinase-deficient patients. This feature is of practical as well as theoretical importance.

Topics: Acid Phosphatase; Alkaline Phosphatase; Aminopeptidases; CD13 Antigens; Child; Child, Preschool; Female; Glycolipids; Histocytochemistry; Humans; Kupffer Cells; Liver; Lysosomes; Male; Niemann-Pick Diseases; Oxidoreductases; Peptide Hydrolases; Phospholipids; Sphingomyelin Phosphodiesterase

Topics: Acid Phosphatase; Brain; Child, Preschool; Female; Fibroblasts; Humans; Liver; Lymphocytes; Niemann-Pick Diseases; Sphingomyelin Phosphodiesterase; Spleen

Topics: Acid Phosphatase; Brain; Chromatography, Thin Layer; Galactosidases; Glycoside Hydrolases; Humans; Hydrogen-Ion Concentration; Liver; Magnesium; Niemann-Pick Diseases; Nitrophenols; Phosphoric Diester Hydrolases; Phosphorus Radioisotopes; Sphingomyelins; Structure-Activity Relationship; Tritium

Topics: Acid Phosphatase; Bone Marrow; Humans; Inclusion Bodies; Liver; Lymph Nodes; Lysosomes; Microscopy, Electron; Niemann-Pick Diseases; Spleen

Topics: Acid Phosphatase; Adolescent; Blood Cells; Bone Marrow; Bone Marrow Cells; Cell Nucleolus; Cell Nucleus; Cells, Cultured; Child; Cytodiagnosis; Endoplasmic Reticulum; Fibroblasts; Heterozygote; Homozygote; Humans; Inclusion Bodies; Lipids; Lysosomes; Microscopy, Electron; Mitochondria; Niemann-Pick Diseases; Nova Scotia; Skin

Topics: Abortion, Therapeutic; Acid Phosphatase; Amniocentesis; Amniotic Fluid; Brain; Carbon Isotopes; Cerebrosides; Chromatography, Thin Layer; Embryonic and Fetal Development; Female; Fetal Diseases; Fetus; Gestational Age; Glucose; Histocytochemistry; Humans; Lipid Metabolism; Liver; Niemann-Pick Diseases; Pregnancy; Sphingomyelins; Spleen

A profound deficiency (10- to 30-fold) of beta-galactosidase activity was found in tissues (liver, spleen, kidney, and brain) from two patients with generalized gangliosidosis; this deficiency is demonstrated as a failure to cleave both p-nitrophenyl-beta-D-galactopyranoside and ganglioside GM(1) labeled with C(14) in the terminal galactose. We believe that this enzymic defect is responsible for the accumulation of ganglioside GM(1) and is the fundamental enzyme defect in generalized gangliosidosis.

Topics: Acid Phosphatase; Aged; Brain; Carbon Isotopes; Child; Child, Preschool; Chromatography, Paper; Galactose; Galactosidases; Gangliosides; Glucosidases; Glycosides; Humans; Infant; Kidney; Lipid Metabolism, Inborn Errors; Lipidoses; Liver; Male; Middle Aged; Molecular Biology; Niemann-Pick Diseases; Nitrophenols; Spleen; Uracil Nucleotides

Topics: Acid Phosphatase; Blood Cells; Child; Child, Preschool; Eosinophils; Female; Golgi Apparatus; Histocytochemistry; Humans; Infant; Leukocytes; Lipid Metabolism; Lipidoses; Lymphocytes; Lysosomes; Male; Microscopy, Electron; Monocytes; Niemann-Pick Diseases; Plasma Cells

Topics: Acid Phosphatase; Child; Diffuse Cerebral Sclerosis of Schilder; Glycogen Storage Disease; Humans; Leukodystrophy, Metachromatic; Mucopolysaccharidosis I; Niemann-Pick Diseases; Sulfatases; Tuberous Sclerosis; Urine

Topics: Acid Phosphatase; Blood; Cortisone; Humans; Lipidoses; Niemann-Pick Diseases; Phosphoric Monoester Hydrolases; Pick Disease of the Brain