About The Medical Condition Sialurias
Find the definition of the medical term Sialurias. Sialurias defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Sialurias
| Sialurias Medical Condition |
|---|
What's The Definition Of The Medical Condition Sialurias?
Autosomal recessive neurodegenerative disorders caused by lysosomal membrane transport defects that result in accumulation of free sialic acid (N-ACETYLNEURAMINIC ACID) within the lysosomes. The two main clinical phenotypes, which are allelic variants of the SLC17A5 gene, are ISSD, a severe infantile form, or Salla disease, a slowly progressive adult form, named for the geographic area in Finland where the kindred first studied resided.
|
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
- Limit Dextrinosis ‐ An autosomal recessive metabolic disorder due to deficient expression…
- Deductibles and Coinsurance ‐ Cost-sharing mechanisms that provide for payment by the insured…
- Sequence Analysis ‐ A multistage process that includes the determination of a sequence…
- Cell Death, Programmed ‐ One of the two mechanisms by which CELL DEATH occurs (the other…
- Hemispatial Neglect ‐ Cognitive disorders characterized by an impaired ability to perceive…
- Deficiency, IgA ‐ A dysgammaglobulinemia characterized by a deficiency of IMMUNOGLOBULIN…
- Platelet Adhesiveness ‐ The process whereby platelets adhere to something other than…
- Carcinomas, Anaplastic ‐ A malignant neoplasm made up of epithelial cells tending to infiltrate…
- Joint Prosthesis Implantations ‐ Partial or total replacement…
- Identity Disorder, Dissociative ‐ A dissociative disorder in which the individual adopts two or…