Top
10
Doctor insights on: Niemann Pick Disease Mutation

Share
1

1
What exactly is niemann pick disease?

What exactly is niemann pick disease?

N-P Disease: Niemann–pick disease refers to a group of fatal inherited metabolic disorders. This disease is a form of sphingolipidosis, as it involves dysfunctional metabolism of sphingolipids. Sphingolipidoses, in turn, are included in the larger family of lysosomal storage diseases (lsds). ...Read more

Mutation (Definition)

In genetics, a mutation is a change in the nucleotide sequence of the genome of an organism, virus, or extrachromosomal genetic element. Mutations result from unrepaired damage to dna or to RNA genomes (typically caused by radiation or chemical mutagens), from errors in the process of replication, or from the insertion or deletion of segments of dna ...Read more


2

2
How do you know if carrier of niemann-pick disease?

How do you know if  carrier of niemann-pick disease?

Testing: Enzymatic and genetic mutation analysis testing through special blood work that your physician can order. ...Read more

3

3
Living with Coronary Artery Disease (Checklist)

Take meds as prescribed
Once
Exercise daily as recommended by your doctor or trainer
daily
Limit meat, dairy, and fats as much as possible
Once
Eat whole grains only - not white bread
Once
4

4
Can you tell me how to know if you are a carrier of niemann-pick disease?

Can you tell me how to know if you are a carrier of niemann-pick disease?

See a geneticist: Niemannn-pick disease is autosomal recessive. Thus, both parents would have to be carriers for the child to manifest the disease. Niemann-pick is divided into types a, b, c, d. For types a and b there are dna tests that may be done to detect if one is a carrier. If this is something you are concerned about, a physician that specializes in genetics may be able to direct you to the exact test. ...Read more

5

5
Are there treatments for niemann pick disease?

Clinical trials: Niemann pick is a progressive disease due to metabolic abnormality that leads to the improper degradation of lipids and build-up in the lysosomes. There are different forms. In general, there is no cure at this time. There are clinical trials with medications and bone marrow transplants that have some promise. Nih has some labs directed at basic and clinical research for niemann pick. ...Read more

6

6
Treating Pelvic Inflammatory Disease (Checklist)

Ask for STD testing
Once
Have your partner get STD testing
Once
Take all of your medication exactly as prescribed
Once
Use condoms when having intercourse to prevent STD transmission
Once
7

7
What is the treatment for niemann-pick disease?

What is the treatment for niemann-pick disease?

N-P Disease: Treatments for niemann–pick disease are limited with care being mostly supportive. Anecdotally, organ transplant has been attempted with limited success. Future prospects include enzyme replacement and gene therapy. Bone marrow transplant has been attempted for type b. Supportive care through nutrition, medication, physical therapy and being followed by specialists can help with quality of life. ...Read more

8

8
What happens if a female is a carrier of allele for niemann-pick disease type a what is her genotype?

What happens if a female is a carrier of allele for niemann-pick disease type a what is her genotype?

Your genotype: depends on whether you are a carrier of Niemann-Pick Type A, B, C 1, C2, D, E or the rare F. Your OB-GYN will refer you for pre-pregnancy genetic counselling. Gather all medical history possible about your affected family members - onset & clinical presentation of symptoms, clinical course & lifespan. Your insurance will cover molecular genetic testing if you have a documented family history. ...Read more

9

9
Living with Addison's Disease (Checklist)

Wear a medic alert
Once
Take additional hydrocortisone/prednisone for fever or injury
Once
Dr. Dariush Saghafi
16 doctors shared insights

Pick Disease (Definition)

Pick disease is a rare condition in which there is a loss of brain function due to abnormal substances inside nerve cells in damaged regions of the brain. The disease progresses slowly. As affected parts of the brain begin to become smaller over time, behavior changes, speech difficulty, and problems with ...Read more


Dr. Oscar Novick
5 doctors shared insights

Niemann Pick Disease (Definition)

Niemann-Pick disease is a metabolic disease passed down in a family. The disease is due to an inability to process fats within nerve cells, which leads ...Read more