Übersetzung für "Gangliosidosis" in Deutsch

The heredity course of gangliosidosis follows the classical laws of genetics.

The GM1 gangliosidosis is caused by an inherited deficiency of the beta-galactosidase enzyme.

GM1 gangliosidosis is a lysosomal storage disease that leads to neurological disorders.

Gangliosidosis occurs in two different forms.

The Golden Retriever was suffering from the so-called Sandhoff variant of GM2 gangliosidosis.

At this meeting he took salivary samples from all Shibas present for a DNA analysis to ascertain if Czech Shibas possibly have the defect gene causing GM1 gangliosidosis.

With GM2 gangliosidosis the beta-hexosaminidase enzyme is missing, the disease pattern normally appears earlier and aggravates quicker.

What is gangliosidosis?

There is no chance of offspring being affected by gangliosidosis but with a probability of 50% carriers will be produced.

Finally those diseases already described in detail on this web site are to be mentioned: the metabolic disease GM1 gangliosidosis, the bleeding disorder haemophilia A and the glaucoma.

As well as humans, cats, sheep, calves and dogs have also contracted gangliosidosis.

They assume that "there may be a high prevalence of carriers all over Japan" and therefore "preventive measures should be taken against GM1 gangliosidosis in Shiba dogs to eradicate this disease or at least to reduce the prevalence of carriers".

In the "International Issue 2006" of SHIBASUSA we are represented by a first contribution: in the permanent column "Shiba Doc" the article from our website about the hereditary disease GM1 gangliosidosis in Shibas has been printed.

Even though both forms of gangliosidosis have similar symptoms, they are evoked by completely different defects of two specific lysosomal enzymes.

For the first time in 1999/2000 the GM1 gangliosidosis was diagnosed in a 6-month-old female, purebred Shiba which from the age of one month had suffered from motoric dysfunctions and showed symptoms of a brain disorder including motoric coordination problems (ataxia, dysmetria) and head tremors.

You will need the knowledge about the structure of an eukaryotic cell to understand several congenital defects, as for example the gangliosidosis.

In the year 2000 a Shiba was diagnosed for the first time in Japan with a rare hereditary disease that was known in different breeds but until then had not occurred in Shibas. This concerns a so-called storage disorder (metabolic disease) by the name of GM1 gangliosidosis which is not curable and is fatal within one and a half years.

Only if two copies of the defective gene (from dam and sire) exist, i.e. the puppy is homzygous, will the disease break out. If carriers are mated, 25% of their offspring will statistically get gangliosidosis, 50% will be carriers and 25% will be free of the defective gene.

Besides these hereditary diseases common to humans and dogs, some less frequent diseases exist which have occurred only in single breeds, for example a certain kind of inherited renal cancer developed only in German Shepherd Dogs. Also the fatal storage disease gangliosidosis until now has been reported to have affected only the Shiba, and 7 further breeds.