About The Medical Condition Finnish Type Sialuria
Find the definition of the medical term Finnish Type Sialuria. Finnish Type Sialuria defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Finnish Type Sialuria
| Finnish Type Sialuria Medical Condition |
|---|
What's The Definition Of The Medical Condition Finnish Type Sialuria?
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
- Hospitals, Proprietary ‐ Hospitals owned and operated by a corporation or an individual…
- Myxedemas, Congenital ‐ A condition due to congenital lack of thyroid hormone, marked…
- Ketosuccinates ‐ Salts and esters of…
- Cross Reaction ‐ Serological reactions in which an antiserum against one antigen…
- Venoms, Scorpion ‐ Venoms from animals of the order Scorpionida of the class Arachnida.…
- Neoplasms, Ureter ‐ Cancer or tumors of the URETER. Hematuria, which occurs in 75%…
- Antagonists, Blood Platelet ‐ Drugs or agents which antagonize or impair any mechanism leading…
- Carminomicin ‐ A very toxic anthracycline-type antibiotic related to DAUNORUBICIN,…
- Elbow, Tennis ‐ A condition characterized by pain in or near the lateral humeral…
- Tryptan ‐ An essential amino acid that is necessary for normal growth in…