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
- Intraoral Photography ‐ Photographic techniques used in orthodontics, aesthetic dentistry,…
- Cerebellar Syndromes, Paraneoplastic ‐ Cerebellar degeneration associated with a remote neoplasm. Clinical…
- Cytotaxins ‐ Chemical substances that attract or repel cells or organisms.…
- Seizures, Subclinical ‐ Conditions characterized by recurrent paroxysmal neuronal discharges…
- Intraocular Lens ‐ Artificial…
- Soybean Proteins ‐ Proteins which are present in or isolated from…
- Pupil Disorders ‐ Conditions which affect the structure or function of the pupil…
- Dicrocoeliasis ‐ Infection with flukes of the genus…
- Immunolabeling Techniques ‐ Histochemical localization of immunoreactive substances using…
- Infections, Bunyaviridae ‐ Virus diseases caused by the…