Question 1

what is niemann-pick syndrome?

Accepted Answer

Inherited disease: Niemann–pick is one of a group of fatal inherited metabolic disorders. This disease is a form of sphingolipidosis, as it involves defective metabolism of sphingolipids. Sphingolipidoses, in turn, are included in the larger family of lysosomal storage diseases (lsds). These accumulate in brain tissue and cause damage which eventually kills the victim. No current cure is known.

Question 2

how exactly is the disease niemann pick common?

Accepted Answer

Niemann-Pick: Incidence of Niemann-Pick Disease Type C – estimate 1/150,000. Incidence of Niemann-Pick Disease types A &amp; B – 1/250,000. However, the number can be significantly higher is specific populations.

Question 3

what do you suggest if my dad has niemann pick's disease type c and also hemochromatosis.?

Accepted Answer

Love him: Hemochromatosis is deadly if missed but very easy to manage. Niemann-Pick's C is getting picked up more often. See whether Dad wants to try to get into a study -- your physician can offer guidance. He's fortunate to have a youngster who cares. Best wishes.

Question 4

what is niemann-pick disease like?

Accepted Answer

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).

Question 5

what exactly is niemann pick disease?

Accepted Answer

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).

Question 6

what are the tests for niemann-pick disease?

Accepted Answer

N-P Disease: Enzymatic and/or genetic mutation analysis through blood work.

Question 7

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

Accepted Answer

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.

Question 8

what are the common symptoms of niemann-pick disease?

Accepted Answer

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.

Question 9

what is the definition or description of: niemann pick disease?

Accepted Answer

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).

Question 10

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

Accepted Answer

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.

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Niemann pick

A member asked:

What is niemann-pick syndrome?

A member asked:

How exactly is the disease niemann pick common?

A member asked:

What do you suggest if my dad has niemann pick's disease type c and also hemochromatosis.?

A member asked:

What is niemann-pick disease like?

A member asked:

What exactly is niemann pick disease?

A member asked:

What are the tests for niemann-pick disease?

A member asked:

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

A member asked:

What are the common symptoms of niemann-pick disease?

A member asked:

What is the definition or description of: niemann pick disease?

A member asked:

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

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