Understanding Genetics

Pompe disease is a genetic disease, meaning that it is caused by abnormalities in gene(s) or chromosomes. Genetic diseases are passed from parents to their children through genes. Genes are basic units of heredity and consist of small segments of DNA that contain instructions for processes and structures in the human body, as well as features that make a person unique. Some genes control traits and features such as gender, height, and eye color. Other genes control bodily processes, such as making the enzymes that help the body function.

This section provides some background information on genetics to help understand how conditions like Pompe disease are inherited.

Human genetic makeup is encoded into complex chemical structure called DNA (short for deoxyribonucleic acid). DNA molecules form the basis of structures called chromosomes. Every person has 46 chromosomes, grouped into 23 pairs, which are found inside cell’s nucleus. Each chromosome is itself divided into thousands of smaller segments, called genes.

The following diagram illustrates these relationships:


Among the 23 pairs of chromosomes, one pair, called sex chromosomes, determines a person’s gender. The other 22 pairs, called autosomes, determine all other non-gender-related traits. The gene that causes Pompe disease is called GAA and is located on chromosome 17, which is an autosomal chromosome.

Because genes are a part of chromosomes, they also come in pairs - during reproduction, each parent passes on half of their genetic material to their offspring.

Each gene pair works together to control a specific function or activity within the cell. Some have relatively small significance, such as defining a person’s hair or eye color, while others control important cellular activities, such as the production of vital enzymes needed for healthy functioning.

Gene Defects and Genetic Diseases

Changes to a normal DNA makeup can result in a defect, also called a mutation, in the gene, which can cause the gene to function improperly. In Pompe disease and other similar disorders, a gene mutation causes a deficiency or malfunction of a necessary enzyme.

Learn more about the underlying cause of Pompe disease 

Some diseases, like Pompe disease, are recessive, which means that both genes in the pair must be defective to cause the disease. This happens when each parent passes on the defective copy of a gene. With these diseases, people who inherit only one defective gene are called carriers. They do not have the disease, but they “carry” the defective gene and may pass it on to their own children.

Getting Professional Help

Genetic counselors educate families on a disease’s genetic aspects and inheritance risks and offer guidance on family testing and planning concerns.

Find out more about the value of genetic counseling 

Genetic Counseling

A diagnosis of Pompe disease can be overwhelming and raise many questions. Genetic counselors are health care professionals specially trained to educate families on the disease’s inheritance patterns and risks, as well as support them through testing and family-planning decisions.

Find out more about how genetic counseling can help families 

Genzyme Support Services

Learn how Genzyme can help people affected by Pompe disease with medical information, advocacy, treatment support, and more.

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Organizations & Websites

Get lists of online resources and worldwide organizations and associations that offer information, support, and more for people living with Pompe disease.

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