gangliosidosis

The diagnosis of GM2 gangliosidosis was confirmed by biochemical and molecular genetic studies.

Late-onset GM2 gangliosidosis may also present as burning dysesthesia.

GM 2 gangliosidosis can refer to:

Gangliosidosis generalized GM1 (type 1)

Without molecular diagnostic methods, only the cherry red spot, characteristic of all GM2 gangliosidosis disorders, provides a definitive diagnostic sign.

It was eventually determined that GM2 gangliosidosis could be caused by mutations on three distinct genes, one of which was an activator protein.

Tay-Sachs disease (also known as GM2 gangliosidosis or hexosaminidase A deficiency) is a rare autosomal recessive genetic disorder.

Mutations in genes coding for these enzymes leads to the accumulation of partially broken down gangliosides in lysosomes, which results in a group of diseases called gangliosidosis.

It also requires genetic testing for gangliosidosis to be carried out to ensure that the breed remains free of this inherited disease which once existed in Korat and Thai breeding lines.

DNA tests are available for three genetic diseases or conditions which have been found in Burmese cats: the Burmese Head Defect, GM2 Gangliosidosis and Hypokalaemia.

By the end of the 1970s, researchers had identified three variant forms of GM2 gangliosidosis, including Sandhoff disease and AB variant, accounting for false negatives in carrier testing.

Mutations in this gene, inherited in an autosomal recessive pattern, result in GM2-gangliosidosis, AB variant, a rare GM2 gangliosidosis that has symptoms and pathology identical with Tay-Sachs disease and Sandhoff disease.

Gangliosidosis GM1 Type 1 Gangliosidosis GM2 Type 2 Ganser Syndrome Gardner Syndrome Gargoylism Garies-Mason Syndrome Gas (Flatus) Gasser Syndrome Gastric cancer: Prevention - Health Prof..

Other differential diagnoses include metabolic disorders (such as GM2 gangliosidosis, phenylketonuria, hypothyroidism, Leigh disease) primarily dystonic juvenile parkinsonism, autosomal recessive early onset parkinsonism with diurnal fluctuation, early onset idiopathic parkinsonism, focal dystonias, dystonia musculorum deformans and dyspeptic dystonia with hiatal hernia.