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Chromatographic components of β-hexosaminidase in I-cell disease (Mucolipidosis II)

✍ Scribed by A. F. Elsen; J. G. Leroy

Book ID
104721592
Publisher
Springer
Year
1979
Tongue
English
Weight
740 KB
Volume
47
Category
Article
ISSN
0340-6717

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✦ Synopsis

Isozymes of N-acetyl-beta-D-hexosaminidase in body fluids, culture medium, postmortem organs, and cultured fibroblasts from patients with I-cell disease were resolved by ion exchange column chromatography. The elution pattern was compared in detail with that of the isozymes in control samples. This approach revealed no qualitative differences between the isozymes from the two sources. There is a relative increase of the neuraminidase-sensitive components of hexosaminidase in I-cell disease. This phenomenon is probably related less to the unknown primary defect of the disorder than to the quantitative change in the distribution of hexosaminidase components between the intra- and the extracellular compartment.

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Prenatal diagnosis of mucolipidosis II (
Prenatal diagnosis of mucolipidosis II (I-cell disease)
✍ J. Gehler; M. Cantz; M. Stoeckenius; J. Spranger 📂 Article 📅 1976 🏛 Springer 🌐 English ⚖ 371 KB

A pregnancy at risk for mucolipidosis II (I-cell disease) was monitored in which an affected fetus was predicted on the basis of the analyses of lysosomal hydrolases in amniotic fluid and cultured amniotic fluid cells, and by the demonstration of an excessive accumulation of [35S] sulfate-labeled gl