GM2-gangliosidosis, AB variant
GM2-gangliosidosis, AB variant (pronunciation: /ɡiː ɛm tuː ɡæŋɡliːoʊsaɪˈdoʊsɪs, eɪ biː vɛəriənt/) is a rare genetic metabolic disorder that affects the body's ability to break down a specific type of fat called GM2 gangliosides.
Etymology
The term "GM2-gangliosidosis" is derived from the name of the fat that accumulates in the body's cells and tissues, "GM2 gangliosides". The "AB variant" refers to the specific type of this disorder.
Symptoms
The symptoms of GM2-gangliosidosis, AB variant include neurological problems, developmental delay, and vision loss.
Causes
GM2-gangliosidosis, AB variant is caused by mutations in the GM2A gene. These mutations lead to a deficiency of the GM2 activator protein, which is necessary for the normal breakdown of GM2 gangliosides.
Diagnosis
Diagnosis of GM2-gangliosidosis, AB variant is based on the clinical symptoms, genetic testing, and the measurement of the GM2 activator protein in the patient's white blood cells or skin cells.
Treatment
There is currently no cure for GM2-gangliosidosis, AB variant. Treatment is supportive and aims to manage the symptoms.
Prognosis
The prognosis for individuals with GM2-gangliosidosis, AB variant is generally poor, with most affected individuals not surviving past early childhood.
See also
External links
- Medical encyclopedia article on GM2-gangliosidosis, AB variant
- Wikipedia's article - GM2-gangliosidosis, AB variant
This WikiMD dictionary article is a stub. You can help make it a full article.
Languages: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
Urdu,
বাংলা,
తెలుగు,
தமிழ்,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
European
español,
Deutsch,
français,
русский,
português do Brasil,
Italian,
polski