Gangliosidosis


By: Lily

What is Gangliosidosis?


Gangliosidosis is a metabolic disease (similar to Tay-Sachs disease) that is classified as a storage disease for certain metabolic products. Gangliosidosis is characterized by an enzyme deficiency which then causes an accumulation of the gangliosides in tissues in the body.

There are three stages or forms of this disease: infantile form, juvenile form, and adult form. If Gangliosidosis is found within the first six months of life, it is considered to be very severe and is classified as infantile form. If Gangliosidosis is found within the first three years of life, then it is less serious and is classified as juvenile form. The final form is adult form and may not even appear until early teenage years or young adult years.

slide030.gifInfantile Form Symptoms:
- Enlargement of liver/spleen
- Cloudy corneas (in eyes)
- Changes in the light of the retinas
- Neurological deterioration
- Heart/valves malfunction

Juvenile Form Symptoms:
- Neurological deterioration
- Seizures
- Death in childhood

Adult Form Symptoms:
- Milder symptoms
- Damage to brain (accumulation in cells)
- Leads to dementia
- Speech/mobility problems Difficulty in swallowing
- Difficulty with swallowing


external image jhg200970f3.jpg

Molecular Basis:


Gangliosidosis is a disease commonly known as GM1 Gangliosidosis. What this disease does is accumulates too many gangliosides in the tissues. This results in a mutation in a certain gene. This gene codes for an enzyme that typically breaks down gangliosides and those types of molecules. The enzyme is called β-galactosidase enzyme deficiency. This disorder is considered lysosomal meaning it deals with the lysosomes (could be compared to as garbage men). The gangliosides that this disease effects, effects the one of the key components to allow the brain's nerve cells to function correctly.

GM1 Gangliosidosis.jpg




Inherited Genes:


Gangliosidosis is inherited if both parents have a single copy each of the mutated gene that they then pass on to their child. Whenever their child receives the mutated gene, it creates an autosomal recessive pattern meaning, that one child could not receive any of the mutated gene, the next two children could each receive one half of the mutated gene and not be affected, but whenever both the mutated gene from the mother and the other from the father reach the last child, he or she is completely affected.

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Works Cited:

www.merriam-webster.com/medical/gangliosidosis
disorders.eyes.arizona.edu/handouts/gm1-gangliosidosis
www.sciencedirect.com/science/article/piiS0925443999000757
http://ghr.nlm.nih.gov/condition/gm1-gangliosidosis
http://www.mayoclinic.org/autosomal-recessive-inheritance-pattern/img-20007457
http://www.nature.com/jhg/journal/v54/n9/images/jhg200970f3.jpg
http://img.medscape.com/slide/migrated/editorial/cmecircle/2006/5092/images/tifft/slide030.gif