About The Medical Condition Cholesterol Lipidosis, Neuronal
Find the definition of the medical term Cholesterol Lipidosis, Neuronal. Cholesterol Lipidosis, Neuronal defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Cholesterol Lipidosis, Neuronal
| Cholesterol Lipidosis, Neuronal Medical Condition |
|---|
What's The Definition Of The Medical Condition Cholesterol Lipidosis, 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
- CD140A Antigens ‐ A PDGF receptor that binds specifically to both PDGF-A chains…
- Broadsides [Publication Type] ‐ Separately published pieces of paper or other material, usually…
- Strongyloses, Equine ‐ Infection of horses with parasitic nematodes of the superfamily…
- Mature Teratomas ‐ A true neoplasm composed of a number of different types of tissue,…
- Paraganglioma ‐ A neural crest tumor usually derived from the chromoreceptor…
- Affinity Chromatographies ‐ A chromatographic technique that utilizes the ability of biological…
- Gyno-Pevaril ‐ A broad spectrum antimycotic with some action against Gram positive…
- System, ABO Blood-Group ‐ The major human blood type system which depends on the presence…
- Series, Fourier ‐ Analysis based on the mathematical function first formulated…
- Elements, Anti-Sense ‐ Nucleic acids which hybridize to complementary sequences in other…