We performed a biochemical study on the patient with mucolipidosis III (ML-III, pseudo-Hurler polydystrophy) in Korea. Confluent fibroblasts from the patient and from normal controls were cultured for 4, 12, 24, 48, and 72 hr, respectively. Lysosomal enzyme activities in culture media after different incubation times and in plasma, leukocytes, and fibroblasts were determined. Most of the leukocyte lysosomal enzymes were within normal limits or slightly lowered; however, plasma lysosomal enzyme activities such as those of hexosaminidase and arylsulfatase A were markedly increased. Numerous phase-dense inclusions were present in the cytoplasm of cultured fibroblasts. Lysosomal enzyme activities of fibroblasts were markedly decreased except for beta-glucosidase. The rates of increase of the lysosomal enzyme activities with incubation time were greater in the culture medium of the patient than in normal control, whereas no difference in the beta-glucosidase activity of the culture media of the patient and the control was found. This study describes the first case of ML-III in Korea, with its typical biochemical characteristics, i.e., a problem with targeting and transporting of lysosomal enzymes which results in a marked increase in plasma lysosomal enzyme activities and a high ratio of extracellular to intracellular lysosomal enzyme activities in cultured fibroblasts.
Cerebroside-Sulfatase/blood ; Child, Preschool ; Culture Media/metabolism ; Cytoplasm/metabolism ; Female ; Fibroblasts/metabolism ; Human ; Korea ; Lysosomes/metabolism ; Microscopy, Phase-Contrast ; Mucolipidoses/*metabolism ; Support, Non-U.S. Gov't ; Time Factors ; beta-Glucosidase/metabolism ; beta-N-Acetylhexosaminidase/blood

No abstract available.
Adult ; Cerebroside-Sulfatase/*metabolism ; Child, Preschool ; *Chromatography, High Pressure Liquid ; Enzyme Assays/instrumentation/*methods ; Female ; Humans ; Kinetics ; Leukocytes/*enzymology ; Leukodystrophy, Metachromatic/diagnosis/enzymology ; Male ; Middle Aged ; Reference Standards ; Substrate Specificity ; Sulfoglycosphingolipids/analysis/metabolism/standards ; *Tandem Mass Spectrometry/standards