About The Medical Condition Niemann-Pick Diseases
Find the definition of the medical term Niemann-Pick Diseases. Niemann-Pick Diseases defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Niemann-Pick Diseases
Niemann-Pick Diseases Medical Condition |
---|
What's The Definition Of The Medical Condition Niemann-Pick Diseases?
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
- Accesses, Facility ‐ Designs for approaching areas inside or outside…
- Veronal ‐ A long-acting barbiturate that depresses most metabolic processes…
- Puppet Children ‐ A syndrome characterized by multiple abnormalities, MENTAL RETARDATION,…
- Juvenile Absence Epilepsy ‐ A childhood seizure disorder characterized by rhythmic electrical…
- Flight Reactions ‐ Innate response elicited by sensory stimuli associated with a…
- Test, Speech Discrimination ‐ Tests of the ability to hear and understand speech as determined…
- Antisense DNA ‐ DNA that is complementary to the sense strand. (The sense strand…
- Denture, Partial, Temporary ‐ A partial denture intended for short-term use in a temporary…
- Alpha-Agonists, Adrenergic ‐ Drugs that selectively bind to and activate alpha adrenergic…
- Risk Appraisal, Health ‐ The measurement of the health status for a given population using…