acid-phosphatase and Leukodystrophy--Metachromatic

The activity of acid hydrolases was studied in serum from patients with mucolipidosis (II and III) and other lysosomal disorders. In mucolipidosis II and III all hydrolases examined except alpha-glucosidase, beta-glucosidase and acid phosphatase were greatly increased. High values for beta-galactosidase were seen in mucopolysaccharidosis types I and II, Gaucher's disease, juvenile amaurotic idiocy and metachromatic leucodystrophy. N-Acetyl-beta-glucosaminidase activity was high in mucopolysaccharidosis types I, II, III and Gaucher's disease. The activity of beta-glucuronidase was increased in mucopolysaccharidosis types I, II and III, Gaucher's disease, juvenile amaurotic idiocy and metachromatic leucodystrophy. Acid phosphatase had increased activity only in Gaucher's disease. In several lysosomal storage disorders no increased values could be found. It is suggested that high values in serum from patients with lysosomal storage disorders (not including mucolipidosis II and III) may depend upon liver cell damage, which disturbs the clearing of acid hydrolases from serum.

Topics: Acid Phosphatase; Gaucher Disease; Glycoside Hydrolases; Humans; Leukodystrophy, Metachromatic; Lipidoses; Lysosomes; Metabolism, Inborn Errors; Mucopolysaccharidoses

Topics: Acid Phosphatase; Arylsulfatases; Female; Humans; Leukodystrophy, Metachromatic; Male; Middle Aged; Optic Nerve; Retina

A 46-year-old woman afflicted with biochemically proven metachromatic leukodystrophy had only mild optic atrophy shortly before her death. Repeated earlier ophthalmoscopic examinations had not revealed any retinal abnormalities. Light microscopy of the retina showed strong acid phosphatase activity in both enlarged ganglionic cells and pigment epithelial cells. Demyelination of both optic nerves was not noted. Ultrastructurally, membranous lysosomal residual bodies were confined to ganglionic cells. We found lipofuscin material in pigment epithelial cells, but also within metachromatic leukodystrophy-specific residual bodies of ganglionic cells. The presence of lipofuscin represents the "wear-and-tear" phenomenon, possibly enhanced by the metachromatic leukodystrophy.

Topics: Acid Phosphatase; Female; Ganglia; Gangliosidoses; Humans; Leukodystrophy, Metachromatic; Lipofuscin; Lysosomes; Macrophages; Middle Aged; Pigment Epithelium of Eye; Retina; Schwann Cells; Vacuoles

The fine structural characteristics of storage products in peripheral nerve, kidney and cerebral white matter, from a case of adult metachromatic leukodystrophy are described. There were pronounced differences from the fine structural aspects in late infantile cases. A large proportion of the inclusions did not exhibit a unit membrane. An hypothesis is proposed to clarify the delayed manifestation of this type of metachromatic leukodystrophy until childhood.

Topics: Acid Phosphatase; Adult; Brain; Demyelinating Diseases; Humans; Inclusion Bodies; Kidney Tubules; Kidney Tubules, Distal; Leukodystrophy, Metachromatic; Lysosomes; Macrophages; Male; Neurons; Peripheral Nerves; Schwann Cells; Sulfoglycosphingolipids

Topics: Acid Phosphatase; Animals; Arylsulfatases; Brain; Cerebrosides; Galactose; Glycolipids; Humans; Hydrogen-Ion Concentration; Leukodystrophy, Metachromatic; Male; Manganese; Mice; Sulfatases; Sulfoglycosphingolipids; Sulfuric Acids; Taurocholic Acid

Topics: Acid Phosphatase; Adolescent; Adult; Child; Child, Preschool; Galactosidases; Genotype; Heterozygote; Hexosaminidases; Humans; Infant; Isoelectric Focusing; Leukocytes; Leukodystrophy, Metachromatic; Lipidoses; Lysosomes; Mathematics; Middle Aged; Pedigree; Phenotype; Sulfatases

Topics: Acid Phosphatase; Cells, Cultured; Child; Fibroblasts; Galactosidases; Glucuronidase; Hexosaminidases; Humans; L-Lactate Dehydrogenase; Leukodystrophy, Metachromatic; Lipid Metabolism, Inborn Errors; Lysosomes; Malate Dehydrogenase

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