About The Medical Condition Classical Niemann-Pick Disease
Find the definition of the medical term Classical Niemann-Pick Disease. Classical Niemann-Pick Disease defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Classical Niemann-Pick Disease
| Classical Niemann-Pick Disease Medical Condition |
|---|
What's The Definition Of The Medical Condition Classical Niemann-Pick Disease?
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
- Protein Arginine Methyltransferase ‐ An enzyme that catalyzes the methylation of arginine residues…
- Diiodide, Dequalinium ‐ A topical bacteriostat that is available as various salts. It…
- Grayling ‐ A family of anadromous fish comprising SALMON, TROUT, whitefish,…
- Low-Birth-Weight Infant ‐ An infant having a birth weight of 2500 gm. (5.5 lb.) or less…
- NF-Y Protein ‐ A heterotrimeric DNA-binding protein that binds to CCAAT motifs…
- Synteny ‐ The presence of two or more genetic loci on the same chromosome.…
- Controls, Cost ‐ The containment, regulation, or restraint of costs. Costs are…
- Streptomyces erythraea ‐ A genus of gram-positive bacteria whose spores are round to oval…
- Peptide PHM ‐ A 27-amino acid peptide with histidine at the N-terminal and…
- Systems, Cell-Free ‐ A fractionated cell extract that maintains a biological function.…