About The Medical Condition Infantile Sialic Acid Storage Disease
Find the definition of the medical term Infantile Sialic Acid Storage Disease. Infantile Sialic Acid Storage Disease defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Infantile Sialic Acid Storage Disease
| Infantile Sialic Acid Storage Disease Medical Condition |
|---|
What's The Definition Of The Medical Condition Infantile Sialic Acid Storage 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
- ATRC2 Transporter ‐ A high-affinity, low capacity system y+ amino acid transporter…
- Serology ‐ The study of serum, especially of antigen-antibody reactions…
- Sexual Unions, Visiting ‐ Sexual activities…
- Hydroxyanisole, Butylated ‐ Mixture of 2- and 3-tert-butyl-4-methoxyphenols that is used…
- Status Epilepticus, Complex Partial ‐ A prolonged seizure or seizures repeated frequently enough to…
- Electroconvulsive Shock ‐ Induction of a stress reaction in experimental subjects by means…
- Moving, Health Facility ‐ The relocation of health care institutions or units thereof.…
- Sleep Walking ‐ A parasomnia characterized by a partial arousal that occurs during…
- Shiner ‐ A family of freshwater fish comprising the minnows…
- Ganglionic Blocking Agents ‐ Agents having as their major action the interruption of neural…