About The Medical Condition Salla Disease
Find the definition of the medical term Salla Disease. Salla Disease defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Salla Disease
| Salla Disease Medical Condition |
|---|
What's The Definition Of The Medical Condition Salla Disease?
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
- Subacute Sclerosing Panencephalitides ‐ A rare, slowly progressive encephalitis caused by chronic infection…
- Transporter, Erythrocyte Lactate ‐ A family of proteins involved in the transport of monocarboxylic…
- Acid-Specific tRNA, Glutamic ‐ A transfer RNA which is specific for carrying glutamic acid to…
- Transcobalamin I ‐ A group of carrier proteins which bind with vitamin B12 in the…
- Protriptyline ‐ Tricyclic antidepressant similar in action and side effects to…
- Lactic Dehydrogenase Virus ‐ A species ARTERIVIRUS, occurring in a number of transplantable…
- Phages, T7 ‐ Virulent bacteriophage and type species of the genus T7-like…
- Gene Rearrangement ‐ The ordered rearrangement of gene regions by DNA recombination…
- Pain, Shoulder ‐ Unilateral or bilateral pain of the shoulder. It is often caused…
- Technique, Replica ‐ Methods of preparing tissue specimens for visualization using…