About The Medical Condition Hexosaminidase A Deficiency Disease
Find the definition of the medical term Hexosaminidase A Deficiency Disease. Hexosaminidase A Deficiency Disease defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Hexosaminidase A Deficiency Disease
| Hexosaminidase A Deficiency Disease Medical Condition |
|---|
What's The Definition Of The Medical Condition Hexosaminidase A Deficiency Disease?
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
- Processes, Copying ‐ Reproduction of data in a new location or other destination,…
- Techniques, Neurological Diagnostic ‐ Methods and procedures for the diagnosis of diseases of the nervous…
- Niridazole ‐ An antischistosomal agent that has become…
- Inositol Phospholipids ‐ Derivatives of phosphatidic acids in which the phosphoric acid…
- Spontaneous Rupture ‐ Tear or break of an organ, vessel or other soft part of the body,…
- Iododeoxyuridine ‐ An analog of DEOXYURIDINE that inhibits viral DNA synthesis.…
- Pharynx Cancers ‐ Tumors or cancer of…
- Frozen Section ‐ Thinly cut sections of frozen tissue specimens prepared with…
- Myosin V1 ‐ Myosin type II isoforms specifically found in the ventricular…
- Pathways, Efferent ‐ Nerve structures through which impulses are conducted from a…