Niemann pick disease is where individuals accumulate sphingolipid because of lacking an enzyme. Tay sachs is when individuals accumulate certain fats in the brain because they don’t have the specific enzyme to break it down.

What is Niemann pick disease?

Definition:

Niemann pick disease is a disorder that people are born with in which a fatty substance known as sphingolipid accumulates in some tissues of the body.

Causes and prevalence:

Niemann pick is an inherited condition in which a gene mutation (mutation of SMPD1 gene) adversely influences the production of the enzyme, acid sphingomyelinase. Niemann pick disease is an autosomal recessive condition, which means it has to be inherited from both parents for the child to have the condition. It occurs most often in Ashkenazi Jewish people. The genetic mutation means that the child lacks an enzyme that breaks down sphingolipid. 

Symptoms and complications:

The symptoms of Niemann pic depends on the type that has been inherited. In type A, the patient has an enlarged spleen and liver, and the nervous system deteriorates. Children with this type do not survive beyond age 3. Type B patients have enlarged lymph nodes, liver, and spleen. People with type B do survive to early adulthood (about age 20) as the nervous tissue is unaffected.

Diagnosis:

Diagnosis is based on a measure of sphingomyelinase and analysis of the child’s DNA. The test can be done on a child before birth by means of chorionic villus sampling or amniocentesis.

Treatment:

Treatment options in the past focused on treating symptoms like seizures. However, clinical trials are being done on the possibility of treating patients by replacing the missing enzyme or by doing stem cell transplants or bone marrow transplants.

What is Tay sachs?

Definition:

Tay sachs is an inherited illness in which a substance called GM2 accumulates in the brain tissue.

Causes and prevalence:

Tay sachs occurs when a child inherits the defective HEXA gene and is unable to produce a specific enzyme, hexosaminidase A. The enzyme is needed to break down certain fats. The illness is more common in certain groups of people such as French Canadians in Quebec, Ashkenazi Jews, and Cajun people of Louisiana. The most common and deadliest type of Tay Sachs is the infantile form.  

Symptoms and complications:

There are several symptoms seen in patients with Tay Sachs. These include muscle trembling, spasms, and weakness, lack of coordination, problems swallowing and speaking, and sometimes mental problems. The child will also have a red spot on the macular in the eye. In time, the child will often become paralyzed, lose their hearing, and have seizures.

Diagnosis:

Diagnosis is based on enzyme measurements and by examining the DNA of the child. 

Treatment:

Tay sachs cannot be cured. Symptoms may be treated with anti-seizure medicine and the child may also need a feeding tube.

Difference between Niemann pick disease and Tay sachs?

Definition

Niemann pick disease is an inherited condition where the substance sphingolipid accumulates in tissues. Tay sachs is an inherited condition where the enzyme hexosaminidase A is missing.

Symptoms

The symptoms of Niemann pick disease include the following: swollen liver and spleen, swollen lymph nodes, and in type A, there is also degeneration of the nervous system. The symptoms of Tay sachs disease include muscle weakness, spasms, and tremors; difficulty swallowing and speaking, lack of coordination, seizures, and mental degeneration.

Inheritance

Niemann pick disease is due to an autosomal recessive allele; a mutation of a gene on chromosome 18. Tay sachs disease is due to an autosomal recessive allele; a mutation of a gene on chromosome 15.

Prevalence

Niemann pick disease occurs in 1 in 250,000 births. Tay sachs occurs in 1 in 320,000 births.

Treatment

The treatment of Niemann pick disease is with anti-seizure medicine; clinical trials are being done on testing stem cell and bone marrow transplants, and enzyme replacement. The treatment of Tay sacks is with feeding tubes and anti-seizure medicines.

Life expectancy

Type A Nieman pick has a life expectancy of about 2 years while type B has a life expectancy of 20 years. Tay sachs in the infantile form has a life expectancy of 5 years.

Table comparing Niemann pick disease and Tay sachs

Summary of Niemann pick disease and Tay sachs

• Both Niemann pick and Tay sachs are deadly diseases that are inherited.
• Nieman pick causes a buildup of sphingolipid in the tissues.
• Tay sachs causes fats to accumulate in the brain.
• Genetic testing and counseling are recommended for people who may be carrying the gene mutations that cause Nieman pick and Tay sachs.

FAQ

What disease is similar to Tay-Sachs?

Sandhoff disease is very similar to Tay Sachs disease. 

What is the difference between Niemann-Pick disease and Gaucher’s disease?

A different enzyme is involved in each case. In Niemann-Pick disease the enzyme acid sphingomyelinase is affected while in Gaucher’s disease the enzyme glucosidase is affected.

What are the three types of Tay-Sachs disease?

The three forms that Tay Sachs takes is juvenile, infantile, and adult or late-onset disease.

 What is Niemann-Pick disease related to?

This disease is related to the group of metabolic disorders in which fat is not metabolized properly.

What is the life expectancy of a person with Niemann-Pick disease?

It depends on the type of disease. In type A disease children don’t usually survive past age 4 while in type B children may survive into their early 20s.

What deficiency causes Niemann-Pick disease?

Niemann-Pick disease is caused by a lack of the enzyme acid sphingomyelinase. 

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