About The Medical Condition Gangliosidosis GM2, Type I
Find the definition of the medical term Gangliosidosis GM2, Type I. Gangliosidosis GM2, Type I defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Gangliosidosis GM2, Type I
Gangliosidosis GM2, Type I Medical Condition |
---|
What's The Definition Of The Medical Condition Gangliosidosis GM2, Type I?
An autosomal recessive inherited gangliosidosis characterized by the onset in the first 6 months of life of an exaggerated startle response, delay in psychomotor development, hypotonia (followed by spasticity), visual loss, and a macular cherry red spot. Hexosaminidase A (see BETA-N-ACETYLHEXOSAMINIDASE) is deficient, leading to the accumulation of GM2 ganglioside in neurons of the central nervous system and retina. This condition is strongly associated with Askenazic Jewish ancestory. (Menkes, Textbook of Pediatric Neurology, 5th ed pp89-96)
|
More Medical Conditions
A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z
Medical Conditions Definitions Of The Day
- Abrin A ‐ A toxic lectin from the seeds of jequirity, Abrus precatorius…
- Forneau 933 ‐ A benzodioxane alpha-adrenergic blocking agent with considerable…
- Polymyositides ‐ Diseases characterized by inflammation involving multiple muscles.…
- Human Combustibilities, Preternatural ‐ A circumstance where a substance or organism takes fire and burns…
- Vagus Nerve Sensory Disorder ‐ Diseases of the tenth cranial nerve, including brain stem lesions…
- Histamine Binding Sites ‐ Cell-surface proteins that bind histamine and trigger intracellular…
- Immunologic Tumoricidal Activities ‐ The phenomenon of target cell destruction by immunologically…
- Generalized Seizures ‐ Clinical or subclinical disturbances of cortical function due…
- Models, Laboratory Animal ‐ Non-human animals, selected because of specific characteristics,…
- DNA Profiling ‐ A procedure in which multilocus band patterns of a DNA sample…