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Biochemical characteristics of a Korean patient with mucolipidosis III (pseudo-Hurler polydystrophy).
J Korean Med Sci. 2003 Oct; 18(5):722-6.JK

Abstract

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, leuko-cytes, 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.

Authors+Show Affiliations

Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Korea. songjhcp@plaza.snu.ac.krNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

14555827

Citation

Song, Junghan, et al. "Biochemical Characteristics of a Korean Patient With Mucolipidosis III (pseudo-Hurler Polydystrophy)." Journal of Korean Medical Science, vol. 18, no. 5, 2003, pp. 722-6.
Song J, Lee DS, Cho HI, et al. Biochemical characteristics of a Korean patient with mucolipidosis III (pseudo-Hurler polydystrophy). J Korean Med Sci. 2003;18(5):722-6.
Song, J., Lee, D. S., Cho, H. I., Kim, J. Q., & Cho, T. J. (2003). Biochemical characteristics of a Korean patient with mucolipidosis III (pseudo-Hurler polydystrophy). Journal of Korean Medical Science, 18(5), 722-6.
Song J, et al. Biochemical Characteristics of a Korean Patient With Mucolipidosis III (pseudo-Hurler Polydystrophy). J Korean Med Sci. 2003;18(5):722-6. PubMed PMID: 14555827.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Biochemical characteristics of a Korean patient with mucolipidosis III (pseudo-Hurler polydystrophy). AU - Song,Junghan, AU - Lee,Dong Soon, AU - Cho,Han Ik, AU - Kim,Jin Q, AU - Cho,Tae-Joon, PY - 2003/10/14/pubmed PY - 2004/6/21/medline PY - 2003/10/14/entrez SP - 722 EP - 6 JF - Journal of Korean medical science JO - J. Korean Med. Sci. VL - 18 IS - 5 N2 - 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, leuko-cytes, 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. SN - 1011-8934 UR - https://www.unboundmedicine.com/medline/citation/14555827/Biochemical_characteristics_of_a_Korean_patient_with_mucolipidosis_III__pseudo_Hurler_polydystrophy__ L2 - https://jkms.org/DOIx.php?id=10.3346/jkms.2003.18.5.722 DB - PRIME DP - Unbound Medicine ER -