ABSTRACT
A case of I-cell disease showing some previously undescribed features is reported. The diagnosis was confirmed on the basis of lysosomal enzyme activity. The radiogram showed metaphyseal radiolucent bands not yet described and extensive epiphyseal stippling. The electronmicroscopical findings clearly demonstrated the presence of abnormal inclusion bodies in absorptive cells and in cells of the lamina propria of the small intestine. Immunological investigation revealed and increased absolute number of both B and T lymphocytes. The B cells, unlike the T cells, showed cytoplasmic vacuoles on phase contrast microscopy. The immune response to antigenic challenge was impaired, as assessed by specific antibody production and in vitro lymphocyte transformation testing.
Subject(s)
Mucolipidoses/pathology , Antibody Formation , Bone and Bones/diagnostic imaging , Child, Preschool , Female , Humans , Infant , Infant, Newborn , Intestine, Small/ultrastructure , Lymphocytes/immunology , Lysosomes/enzymology , Mucolipidoses/genetics , Mucolipidoses/physiopathology , Pedigree , RadiographyABSTRACT
The absence of aryl sulphatase B (Maroteaux-Lamy syndrome) has been confirmed in a five month old child. The estimation of urine mucopolysaccharides and enzyme studies on cultured fibroblasts were performed at an early stage.
Subject(s)
Chondro-4-Sulfatase/deficiency , Mucopolysaccharidoses/enzymology , Mucopolysaccharidosis VI/enzymology , Sulfatases/deficiency , Chondro-4-Sulfatase/metabolism , Fibroblasts/enzymology , Glycosaminoglycans/urine , Humans , Infant , MaleABSTRACT
In two related Sanfilippo B families, comprising 27 individuals, some biochemical parameters were studied. After detection of the patients, an attempt was made to distinguish between heterozygotes and normals. The excretion of glycosaminoglycans in the urine and N-acetyl-alpha-D-glucosaminidase activity in leukocytes and plasma were taken as parameters for the study. The determination of N-acetyl-a-D-glucosaminidase activity in plasma is considered to be the most suitable method for heterozygote detection.
Subject(s)
Mucopolysaccharidoses/genetics , Mucopolysaccharidosis III/genetics , Acetylglucosaminidase/blood , Adolescent , Adult , Child , Female , Glycosaminoglycans/urine , Humans , Leukocytes/enzymology , Male , Middle Aged , Mucopolysaccharidosis III/enzymology , Mucopolysaccharidosis III/metabolismSubject(s)
Mucopolysaccharidoses/genetics , Mucopolysaccharidosis III/genetics , Adolescent , Adult , Consanguinity , Female , Humans , Male , Mucopolysaccharidosis III/diagnosis , PedigreeSubject(s)
Glycoside Hydrolases/blood , Iduronidase/blood , Leukocytes/enzymology , Mucopolysaccharidoses/diagnosis , Mucopolysaccharidosis I/diagnosis , Chondroitin/metabolism , Diagnosis, Differential , Female , Galactosidases/blood , Heterozygote , Hexosaminidases/blood , Humans , Male , Mucopolysaccharidoses/enzymology , Mucopolysaccharidosis I/enzymology , Mucopolysaccharidosis III/enzymology , SyndromeABSTRACT
A method is presented for the determination of the activity of sphingomyelinase. It is based on the determination of sphingomyelin before and after enzymatic conversion with the aid of a quantitative paper chromatographic analysis of phospholipids. This method is used for the determination of sphingomyelinase activity in various tissues such as those of the human brain and liver and fibroblast cultures. Normal values are presented.
