About The Medical Condition Sphingolipidoses
Find the definition of the medical term Sphingolipidoses. Sphingolipidoses defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Sphingolipidoses
| Sphingolipidoses Medical Condition |
|---|
What's The Definition Of The Medical Condition Sphingolipidoses?
A group of inherited metabolic disorders characterized by an excessive intra-lysosomal deposition of glycosphingolipids and phosphosphingolipids in the CENTRAL NERVOUS SYSTEM and, to a variable degree, in visceral structures. Clinical features vary with the specific subtype of the disease, but common features include progressive deterioration in psychomotor and visual function. (From Arch Neurol 1998 Aug;55(8):1055-6; Menkes, Textbook of Child Neurology, 5th ed, p89)
|
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
- Lesions, Bullous ‐ Visible accumulations of fluid within or beneath the…
- Werdnig-Hoffmann Disease ‐ A group of recessively inherited diseases that feature progressive…
- Entrapment Neuropathy, Carpal Tunnel ‐ Entrapment of the MEDIAN NERVE in the carpal tunnel, which is…
- Distribution, Statistical ‐ The complete summaries of the frequencies of the values or categories…
- Pseudomonas Infection ‐ Infections with bacteria of the genus…
- Sulfate, Polymyxin B ‐ A mixture of polymyxins B1 and B2, obtained from Bacillus polymyxa…
- Immunoglobulin G ‐ The major immunoglobulin in normal…
- Detoxication, Sorption ‐ Elimination of toxic or biologically active substances from body…
- Stenoses, Pulmonary Subvalvular ‐ Stenosis of the conus arteriosus (infundibulum) with or without…
- Phosphatase G, Protein ‐ An enzyme that catalyzes the conversion of phosphorylated, inactive…