what is niemann-pick disease and what are the disease
symptoms?
- 2 Answers
- 5401 Views
- Biocon, I also Faced
- E-Mail Answers
Answer Posted / abhilash
Niemann-pick disease is a rare genetic disorder.
this is caused by a deficiency of enzyme sphingomyelinase
which cleaves ceramide-phosphocholine bond of sphingomyelin.
sphingomyelin accumulates in large amounts in
reticuloendothelial system .
niemann-pick disease cells r found in
bonemarrow,spleen,liver lungs etc.
disease manifests in 2 forms.
early disease is charecterised by
hepatosplenomegaly,macular degeneration,cherry red retinal
spot mental retardation and blindness.
late or adult stage intellectual impairment during late
infancy, no cahanges in ocular fundi death of the patient
occurs by the age of 5.
| Is This Answer Correct ? | 3 Yes | 0 No |
Post New Answer View All Answers
Explain activation energy?
What are the favorable conditions for formation of cat ions?
Who proposed law of mass action?
Which element has maximum catenation ability?
What do you like LEAST & MOST about your current position?
define standard feat of formation?
Give examples of tautomers.
What is the quaternary structure of a protein? Do all proteins have quaternary structure?
Define bond energy?
I understand that urine can act as a reagent to break disulfide bonds? I am particularly interested in bonds between cysteines. and or any other amino acids.
What is the importance of enzymes for the living beings?
Aromatic compounds generally undergo which type of reactions?
Polymers of vinyl chloride are called?
If a polar molecule has a charge of 4.8 * 10^ (-10) and internuclear distance is 1A then what is its dipole moment?
What is meant by the 5’ and 3’ extremities of nucleic acids?
