Determination of lysosomal enzymes in saliva. Confirmation of the diagnosis of metachromatic leukodystrophy and fucosidosis by enzyme analysis

Clinica Chimica Acta; International Journal of Clinical Chemistry
W R den Tandt, J Jaeken

Abstract

This paper deals with the measurement of acid hydrolases in uncentrifuged and centrifuged saliva of normal controls and the determination of some of their physical characteristics such as pH optimum, thermal stability, and residual activity after freezing and storage. From this study it appears that beta-D-glucosidase sediments totally, whereas the other enzymes show varying residual activity in the supernatant after centrifugation. In the saliva from 2 patients with metachromatic leukodystrophy and 2 patients with fucosidosis a deficiency of arylsulphatase A and alpha-L-fucosidase, respectively, was found.

References

Mar 5, 1981·Clinica Chimica Acta; International Journal of Clinical Chemistry·R Cherian, A S Balasubramanian
Feb 26, 1982·Clinica Chimica Acta; International Journal of Clinical Chemistry·G SulochanaL Padmanabhan
Oct 25, 2011·Molecular Genetics and Metabolism·M TangK Lai
Oct 1, 1987·Scandinavian Journal of Dental Research·P E EngströmM L Olsson
Jun 1, 1987·Scandinavian Journal of Dental Research·N E FoudaM L Svensson
Nov 1, 1985·Journal of Periodontal Research·J J ZambonJ Slots
Jun 1, 1988·Scandinavian Journal of Dental Research·N E FoudaM L Olsson

Citations

Jan 1, 1977·Archives of Oral Biology·S ShizukuishiY Uesugi
May 19, 1973·Lancet·J W Dundee, P K Gupta
Aug 1, 1972·Clinica Chimica Acta; International Journal of Clinical Chemistry·W R den Tandt
Sep 1, 1970·Proceedings of the Society for Experimental Biology and Medicine·R MenguyL Desbaillets

Related Concepts

Leukodystrophy, Metachromatic
Hot Temperature
Arylsulfatase A Deficiency
Carbohydrate Metabolism, Inborn Errors
Vitamin A Deficiency
Lysosomes
Cerebroside-Sulfatase
Saliva
Exoglycosidases
Fucose

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Synapse Loss as Therapeutic Target in MS

As we age, the number of synapses present in the human brain starts to decline, but in neurodegenerative diseases this occurs at an accelerated rate. In MS, it has been shown that there is a reduction in synaptic density, which presents a potential target for treatment. Here is the latest research on synapse loss as a therapeutic target in MS.

Artificial Intelligence in Cardiac Imaging

Artificial intelligence (ai) techniques are increasingly applied to cardiovascular (cv) medicine in cardiac imaging analysis. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

Social Learning

Social learning involves learning new behaviors through observation, imitation and modeling. Follow this feed to stay up to date on the latest research.

Cell Atlas of the Human Eye

Constructing a cell atlas of the human eye will require transcriptomic and histologic analysis over the lifespan. This understanding will aid in the study of development and disease. Find the latest research pertaining to the Cell Atlas of the Human Eye here.

Single Cell Chromatin Profiling

Techniques like ATAC-seq and CUT&Tag have the potential to allow single cell profiling of chromatin accessibility, histones, and TFs. This will provide novel insight into cellular heterogeneity and cell states. Discover the latest research on single cell chromatin profiling here.

Genetic Screens in iPSC-derived Brain Cells

Genetic screening is a critical tool that can be employed to define and understand gene function and interaction. This feed focuses on genetic screens conducted using induced pluripotent stem cell (iPSC)-derived brain cells.

Related Papers

Clinica Chimica Acta; International Journal of Clinical Chemistry
S OkadaJ I Furuyama
Clinica Chimica Acta; International Journal of Clinical Chemistry
D W Piper, B H Fenton
© 2020 Meta ULC. All rights reserved