About The Medical Condition Lipidosis, Neuronal Cholesterol
Find the definition of the medical term Lipidosis, Neuronal Cholesterol. Lipidosis, Neuronal Cholesterol defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Lipidosis, Neuronal Cholesterol
| Lipidosis, Neuronal Cholesterol Medical Condition |
|---|
What's The Definition Of The Medical Condition Lipidosis, Neuronal Cholesterol?
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
- Neoplasms, Intracranial ‐ Neoplasms of the intracranial components of the central nervous…
- Aujeszky Disease Virus ‐ A species of VARICELLOVIRUS producing a respiratory infection…
- Syndrome, Marchiafava-Micheli ‐ Disorder characterized by intravascular hemolysis and hemoglobinuria.…
- Hydrochloride, Methamphetamine ‐ A central nervous system stimulant and sympathomimetic with actions…
- Tumor, Medullary ‐ Benign and malignant intra-axial tumors of the MESENCEPHALON;…
- Massages, Heart ‐ Rhythmic compression of the heart by pressure applied manually…
- Proximal Renal Tubular Dysfunction ‐ Constellation of clinical and laboratory manifestations produced…
- Bite Force ‐ The force applied by the masticatory muscles in dental…
- HMSN Type IIs ‐ A hereditary motor and sensory neuropathy transmitted most often…
- Drug Recall ‐ Control of drug and narcotic use by international agreement,…