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Doctor insights on: Niemann Pick Disease Mutation

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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

Dr. Oscar Novick
5 doctors shared insights

Niemann Pick Disease (Definition)

Niemann Pick disease is a group of metabolic disorders that are caused by genetic mutations. The disorder is in the lysosomal storage system. Sphingomyelin accumulates in lysosomes in cells. The lysosomes normally transport material through and out of the cell. The three most commonly recognized forms are Niemann-Pick Types A and B (ASMD or Acid Sphingomyelinase Deficiency) and Niemann-Pick ...Read more


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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

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Living with Coronary Artery Disease (Checklist)

Take meds as prescribed
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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

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What is the definition or description of: Niemann Pick disease?

What is the definition or description of: Niemann Pick disease?

Niemann Pick disease: Niemann Pick disease is a group of metabolic disorders that are caused by genetic mutations. The disorder is in the lysosomal storage system. Sphingomyelin accumulates in lysosomes in cells. The lysosomes normally transport material through and out of the cell. The three most commonly recognized forms are Niemann-Pick Types A and B (ASMD or Acid Sphingomyelinase Deficiency) and Niemann-Pick Disease Type C (NPC). ...Read more

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Treating Pelvic Inflammatory Disease (Checklist)

Ask for STD testing
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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

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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

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Living with Addison's Disease (Checklist)

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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

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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

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

Genetic testing: There are genetic tests that are available. If it is a strong concern as a female, you can see genetic counselor before becoming pregnant or if are pregnant. In a male, you can get tested. The testing is not standard because it is rare condition. Be careful about insurance problems if you are tested and come up positive as it now is a flag even though you have no chance of getting the disorder. ...Read more

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What are the common symptoms of niemann-pick disease?

What are the common symptoms of niemann-pick disease?

N-P Disease SYmptoms: Symptoms are related to the organs in which they accumulate. Just a few examples are enlargement of the liver and spleen, unsteady gait, slurring of speech and discoordinated swallowing. Bone marrow cavities may be enlarged and the cortical bone may be thinned. Reduced appetite, abdominal distension and pain as well as thrombocytopenia secondary to splenomegaly. ...Read more

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What kind of life does the person with niemann-pick disease have?

Neurological issues: Niemann-pick disease is a lysosomal storage disorder wherein the patient cannot degrade sphingomyelin-one of the major lipids of the nervous system. Thus there is build-up in all the cells of the body but most profoundly affecting the nervous system. It affects the cerebellum that leads to balance problems and speech problems. It can also affect the cortex-leading to seizures and cognitive issues. ...Read more

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Schedule a visit with a dietitian
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When eating out, inform your waitstaff you are intolerant of gluten
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What change to the genetic code causes the niemann-pick disease?

Niemann Pick Disease: is a group of metabolic disorders with autosomal recessive inheritance. Each child of 2 carriers has a 25% chance of inheriting the defective gene from both parents & having the disease. Mutations of the SMPD1 gene on Chromosome 11p.15.4 cause Types A & B. Mutations of the NPC1 gene on Chr. 18q11.2 cause types C1 & D. A mutant NPC2 gene on Chr. 14q24.3, causes Type C2. See nnpdf.org. for more. ...Read more

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What is niemann-pick disease like?

What is niemann-pick disease like?

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


Dr. Adam Lewis
17 doctors shared insights

Pick Disease (Definition)

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 ...Read more