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[Mucolipidosis type III (case report)].
Lijec Vjesn. 1996 Jan-Feb; 118(1-2):17-20.LV

Abstract

A six-year-old boy with mucolipidosis type III or pseudo Hurler polydystrophy is described. The disease is manifested by multiple progressive joint contractures, especially of fingers, presenting as claw hands. The diagnosis of mucolipidosis was established after exclusion of rheumatoid arthritis and mucopolysaccharidosis. In serum and medium of cultured skin fibroblasts, high catalytic activities of several lysosomal enzymes with strikingly decreased values in fibroblast homogenate were found. In most lysosomal diseases gene mutations cause reduced or absent activity of a specific enzyme. In mucolipidosis type III, a basic biochemical disorder is the absence of mannose-6-phosphate, a marker that enables lysosomal membrane receptors to recognize lysosomal enzymes. The transport of lysosomal enzymes across the lysosomal membrane is therefore defective. These and several other metabolic diseases are thus categorized as the disorders of the lysosomal enzyme transport. A genetic and biochemical heterogeneity, as well as clinical manifestations, are described in more detail.

Authors+Show Affiliations

Klinika za djecje bolesti Zagreb.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

hrv

PubMed ID

8759415

Citation

Ligutić, I, et al. "[Mucolipidosis Type III (case Report)]." Lijecnicki Vjesnik, vol. 118, no. 1-2, 1996, pp. 17-20.
Ligutić I, Barisić I, Fumić K, et al. [Mucolipidosis type III (case report)]. Lijec Vjesn. 1996;118(1-2):17-20.
Ligutić, I., Barisić, I., Fumić, K., & Sabados, M. (1996). [Mucolipidosis type III (case report)]. Lijecnicki Vjesnik, 118(1-2), 17-20.
Ligutić I, et al. [Mucolipidosis Type III (case Report)]. Lijec Vjesn. 1996;118(1-2):17-20. PubMed PMID: 8759415.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Mucolipidosis type III (case report)]. AU - Ligutić,I, AU - Barisić,I, AU - Fumić,K, AU - Sabados,M, PY - 1996/1/1/pubmed PY - 1996/1/1/medline PY - 1996/1/1/entrez SP - 17 EP - 20 JF - Lijecnicki vjesnik JO - Lijec Vjesn VL - 118 IS - 1-2 N2 - A six-year-old boy with mucolipidosis type III or pseudo Hurler polydystrophy is described. The disease is manifested by multiple progressive joint contractures, especially of fingers, presenting as claw hands. The diagnosis of mucolipidosis was established after exclusion of rheumatoid arthritis and mucopolysaccharidosis. In serum and medium of cultured skin fibroblasts, high catalytic activities of several lysosomal enzymes with strikingly decreased values in fibroblast homogenate were found. In most lysosomal diseases gene mutations cause reduced or absent activity of a specific enzyme. In mucolipidosis type III, a basic biochemical disorder is the absence of mannose-6-phosphate, a marker that enables lysosomal membrane receptors to recognize lysosomal enzymes. The transport of lysosomal enzymes across the lysosomal membrane is therefore defective. These and several other metabolic diseases are thus categorized as the disorders of the lysosomal enzyme transport. A genetic and biochemical heterogeneity, as well as clinical manifestations, are described in more detail. SN - 0024-3477 UR - https://www.unboundmedicine.com/medline/citation/8759415/[Mucolipidosis_type_III__case_report_]_ L2 - http://www.diseaseinfosearch.org/result/4906 DB - PRIME DP - Unbound Medicine ER -
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