About The Medical Condition Sialuria
Find the definition of the medical term Sialuria. Sialuria defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Sialuria
| Sialuria Medical Condition |
|---|
What's The Definition Of The Medical Condition 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
- Rod Outer Segment ‐ The portion of the retinal rod cell between the inner segment…
- Reagent, Tillmans ‐ A dye used as a reagent in the determination of…
- Infections, Hospital ‐ Any infection which a patient contracts in a health-care…
- Infection, Reproductive Tract ‐ Invasion and multiplication of microorganisms in body tissues,…
- Vascular Prosthesis ‐ Prosthesis, constructed of either synthetic or biological material,…
- Cements, Dental ‐ Substances used as bonding or luting agents in restorative dentistry,…
- Bonding ‐ Emotional attachment to someone or something in the…
- Scleroses, Primary Lateral ‐ Diseases characterized by a selective degeneration of the motor…
- BAY-a-1040 ‐ A potent vasodilator agent with calcium antagonistic action.…
- MSA-1 Protein ‐ A surface protein found on Plasmodium species which induces a…