About The Medical Condition Cholesterol Lipidoses, Neuronal
Find the definition of the medical term Cholesterol Lipidoses, Neuronal. Cholesterol Lipidoses, Neuronal defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Cholesterol Lipidoses, Neuronal
| Cholesterol Lipidoses, Neuronal Medical Condition |
|---|
What's The Definition Of The Medical Condition Cholesterol Lipidoses, Neuronal?
A group of diseases marked by autosomal recessive inheritance and accumulation of sphingomyelin in cells of the RETICULOENDOTHELIAL SYSTEM. They are divided into 5 subtypes: A-E. Type A (classic infantile form) is caused by a deficiency of SPHINGOMYELIN PHOSPHODIESTERASE and presents at age 6-12 months with progressive hepatosplenomegaly and neurologic deterioration. Type B (non-neuronopathic form) presents in childhood with hepatosplenomegaly and pulmonary infiltrates. Type C (chronic neuronopathic form) is caused by defective intracellular cholesterol transport and is divided into severe infantile, late infantile, juvenile, and neonatal hepatitis forms. Type D (Nova Scotian Variant) is phenotypically similar to type C. Type E is an adult non-neuronopathic form. (From Menkes, Textbook of Child Neurology, 5th ed, pp101-4)
|
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
- Guanine Nucleotide Exchange Factors ‐ Protein factors that promote the exchange of GTP for GDP bound…
- Rheumatic Chorea ‐ Acquired and hereditary conditions which feature CHOREA as a…
- Transitional Cell Carcinoma ‐ A malignant neoplasm derived from transitional epithelium, occurring…
- Hydroxymethylbilane Synthetase ‐ An enzyme that catalyzes the formation of hydroxymethylbilane…
- Cervical Ripening ‐ A change in the cervix with respect to its readiness to relax.…
- Evaluations ‐ Studies determining the effectiveness or value of processes,…
- Chromaffin Cell ‐ Cells that store epinephrine secretory vesicles. During times…
- Glutathione S-Transferase 3 ‐ A transferase that catalyzes the addition of aliphatic, aromatic,…
- Alveolodental Membranes ‐ Fibrous connective tissue surrounding the root of a tooth that…
- Soft Tissue Sarcomas ‐ A connective tissue neoplasm formed by proliferation of mesodermal…