About The Medical Condition Sialurias, Infantile Form
Find the definition of the medical term Sialurias, Infantile Form. Sialurias, Infantile Form defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Sialurias, Infantile Form
| Sialurias, Infantile Form Medical Condition |
|---|
What's The Definition Of The Medical Condition Sialurias, Infantile Form?
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
- Naphthoquinones ‐ Naphthalene rings which contain two ketone moieties in any position.…
- Parental Notifications ‐ Persons functioning as natural, adoptive, or substitute parents.…
- Non-Steroidal Estrogens ‐ Non-steroidal compounds with estrogenic…
- Disabled Children ‐ Children with mental or physical disabilities that interfere…
- Repeats, Ankyrin ‐ Protein motif that contains a 33-amino acid long sequence that…
- Expression, Facial ‐ Observable changes of expression in the face in response to emotional…
- Languages, Sign ‐ A system of hand gestures used for communication by the deaf…
- Vancocin ‐ Antibacterial obtained from Streptomyces orientalis. It is a…
- Korsakoff Syndromes, Alcohol-Induced ‐ A mental disorder associated with chronic ethanol abuse (ALCOHOLISM)…
- Hepatomegaly ‐ Enlargement of…