About The Medical Condition Sialic Acid Storage Disease, Finnish Type
Find the definition of the medical term Sialic Acid Storage Disease, Finnish Type. Sialic Acid Storage Disease, Finnish Type defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Sialic Acid Storage Disease, Finnish Type
| Sialic Acid Storage Disease, Finnish Type Medical Condition |
|---|
What's The Definition Of The Medical Condition Sialic Acid Storage Disease, Finnish Type?
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
- Nephron Nephrosis, Lower ‐ Acute kidney failure resulting from destruction of tubular epithelial…
- Esophagitides, Reflux ‐ Inflammation of the esophagus caused by reflux of gastric juice…
- Somatotropin Hypersecretion Syndrome (Acromegaly) ‐ A disorder caused by excessive secretion of SOMATOTROPIN, characterized…
- BU-3839T ‐ A synthetic TETRACYCLINE derivative with similar antimicrobial…
- Liner, Denture ‐ Material applied to the tissue side of a denture to provide a…
- Ocotea ‐ A plant genus in the…
- Para-Azobenzenearsonate ‐ A hapten capable of eliciting both antibody formation and delayed…
- Foscarnet Disodium Salt ‐ An antiviral agent used in the treatment of cytomegalovirus retinitis.…
- Lymphoma Virus, Burkitt ‐ The type species of LYMPHOCRYPTOVIRUS, subfamily GAMMAHERPESVIRINAE,…
- Apo-A ‐ Lipoproteins found in human blood serum in the high-density and…