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
- Premature Atrial Contraction ‐ Premature contractions of the heart arising from an ectopic atrial…
- Recovery Rooms ‐ Hospital unit providing continuous monitoring of the patient…
- Study, Cohort ‐ Studies in which subsets of a defined population are identified.…
- Frog, Green ‐ An edible species of the family Ranidae, occurring in Europe…
- Leukodystrophies, Spongiform ‐ A rare neurodegenerative condition of infancy or childhood characterized…
- Allergen Challenges, Bronchial ‐ Tests involving inhalation of allergens (nebulized or in dust…
- Apex Cardiographies ‐ The graphic recording of chest wall movement due to cardiac…
- Occupational Health Nursing ‐ The practice of nursing in the work…
- Minimally Conscious States ‐ Vegetative state refers to the neurocognitive status of individuals…
- Deficiency, Argininosuccinic Acid Synthetase, Partial ‐ A group of diseases related to a deficiency of the enzyme ARGININOSUCCINATE…