Format

Send to

Choose Destination
See comment in PubMed Commons below
Nihon Rinsho. 1995 Dec;53(12):3028-34.

[I-cell disease and pseudo-Hurler polydystrophy].

[Article in Japanese]

Author information

1
Department of Pediatrics, Nihon University, School of Medicine.

Abstract

I-cell disease (ML II) and pseudo-Hurler poly-dystrophy (ML-III) are lysosomal storage diseases caused by abnormal lysosomal enzyme phosphorylation and localization. In both diseases, newly synthesized lysosomal enzymes are secreted into the extra-cellular medium instead of being targeted correctly to lysosomes. All cells and tissues of affected medium instead of being targeted correctly to lysosomes. All cells and tissues of affected patients are deficient in UDP-N-acetylglucosamine: lysosomal enzyme N-acetylglucosamine-1-phosphotransferase activity. However, we have demonstrated that liver cells from ML II patients have normal lysosomal enzyme contents. In Japan, ML II is a relatively common disorder whereas ML III is very rare as compared to Western Countries. The natural history of 21 cases with ML II, as well as 5 prenatally diagnosed cases of ML II, have been reported by our research group.

PMID:
8577054
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Loading ...
    Support Center