what is niemann-pick disease and what are the disease
symptoms?
- 2 Answers
- 5447 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 kararch effect?
What are the balanced chemical equations of breathing?
Why can it be said that the enzymatic action is highly specific?
Which form of isomers of a substance is more stable?
Do the phosphate and the pentose groups give homogeneity or heterogeneity to the nucleic acid chains? Supported by that which of those groups is expected to participate in the highly diverse and heterogeneous genetic coding, i.e., Which of those groups is the basis of the information for protein production?
Which electrode acts as reference electrode and gives its potential value?
Of what units are, nucleic acids constituted?
What is the name of the dna duplication process?
What are some examples of chemical and physical changes?
Why does the pH of the blood decrease in a person who has digested trematol?
How do you call fifth, ‘a’ group elements collectively?
What are the units of bond length?
The elution volume of an enzyme on a gel filtration column can be predicted from a) its enzyme activity b) its protein absorbance at 280 nm c) subunit composition and monomer molecular mass(es) d) Choices a) and b) are both correct.
What are enzyme cofactors?
ano po ba ang bermuda triangle? ano po ang nandito? meron po bang mga naitala na aksidente sa gawing ito? ano po ang scientific question nito?
