Disease at a Glance

Summary
Lactate dehydrogenase deficiency is a condition that affects how the body breaks down sugar to use as energy in cells, primarily muscle cells. There are two types of Lactate dehydrogenase deficiency: lactate dehydrogenase A deficiency (sometimes called glycogen storage disease XI) and lactate dehydrogenase B deficiency. People with lactate dehydrogenase A deficiency experience fatigue, muscle pain, and cramps during exercise (exercise intolerance). People with lactate dehydrogenase B deficiency typically do not have symptoms. Lactate dehydrogenase A deficiency is caused by genetic changes in the LDHA gene. Lactate dehydrogenase B deficiency is caused by genetic changes in the LDHB gene. Both types are inherited in an autosomal recessive pattern.

About Lactate dehydrogenase deficiency

Many rare diseases have limited information. Currently GARD is able to provide the following information for Lactate dehydrogenase deficiency:

  • Population Estimate:This section is currently in development.
  • Symptoms:May start to appear as a Child.
  • Experts:Patient organizations are available to help find a specialist for this condition.
  • Organizations:Organizations specific to this condition are available to help find support. 

When do symptoms of this disease begin?
The most common ages for symptoms of a disease to begin is called age of onset. Age of onset can vary for different diseases and may be used by a doctor to determine the diagnosis. For some diseases, symptoms may begin in a single age range or several age ranges. For other diseases, symptoms may begin any time during a person's life.
Prenatal
Before Birth
Newborn
Birth-4 weeks
Infant
1-23 months
Child Selected
2-11 years
Adolescent
12-18 years
Adult
19-65 years
Older Adult
65+ years
Symptoms may start to appear as a Child.

Symptoms

These symptoms may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom.
This disease might cause these symptoms:
Musculoskeletal System

7 Symptoms

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Musculoskeletal System

Musculoskeletal System

The musculoskeletal system is made up of the bones, muscles, and joints. Common symptoms of problems in the musculoskeletal system include pain, weakness, stiffness, noises in the joints, inflammation, and decreased range of motion. Diseases affecting the musculoskeletal system may be diagnosed and treated by an orthopedist, rheumatologist, or neuromuscular specialist.

Causes

This section is currently in development. 

Advocacy and Support Groups

How can a patient organization be helpful?

Patient advocacy and support organizations offer many valuable services and often drive the research and development of treatments for their disease(s). Because these organizations include the life experiences of many different people who have a specific disease, they may best understand the resources needed by those in their community. Although missions of organizations may differ, services may include, but are not limited to:
 

  • Ways to connect to others and share personal stories
  • Easy-to-read information
  • Latest treatment and research information
  • Lists of specialists or specialty centers
  • Financial aid and travel resources
Please note: GARD provides the names of patient organizations for informational purposes only and not as an endorsement of their services. Please contact the organization directly if you have questions about the information or resources they provide.

What do disease-specific organizations do?

Some organizations build a community of patients and families impacted by a specific disease or group of related diseases. These organizations usually have more disease-specific information and services, including helping new members find others who have the same disease.

What do organizations that focus on a medical condition do?

Some organizations build a community of patients and families impacted by a medical condition, like epilepsy, or related conditions, like heart problems, that may also be a symptom in other diseases. These organizations usually have information and services focused more on the medical condition(s), but may also have information about associated diseases.

What do umbrella organizations do?

Rare disease umbrella organizations focus on improving the lives of all those impacted by rare diseases through education and advocacy efforts. Umbrella organizations provide a range of services for patients, families, and disease-specific organizations.

Patient Organizations

5 Organizations

Organization Name

Organization Type

Service

Country

Language

Muscular Dystrophy Association
https://www.mda.org
Disease Specific

Lactate Dehydrogenase Deficiency

Service

Information

Research

Specialist

Country

United States

Language

English

EveryLife Foundation for Rare Diseases
https://everylifefoundation.org/
Umbrella

Lactate Dehydrogenase Deficiency

Service

Information

Country

United States

Language

English

Spanish

Umbrella

Lactate Dehydrogenase Deficiency

Service

Information

Country

United States

Language

English

Umbrella

Lactate Dehydrogenase Deficiency

Service

Information

Country

United States

Language

English

National Organization for Rare Disorders
https://rarediseases.org/
Umbrella

Lactate Dehydrogenase Deficiency

Service

Information

Research

Country

United States

Language

English

Spanish

5 Organizations

Research

Why is Research Important for Rare Diseases?

Research increases what we know about rare diseases so that people can get a diagnosis more quickly and can know what to expect. Research also helps doctors better understand how well a treatment works and can lead to new treatment discoveries. It may even help improve diagnosis and treatment of more common diseases.

How do you find the right clinical study?

  • Discuss the clinical study with a trusted medical provider before enrolling
  • Review the "Study Description," which discusses the purpose of the study, and "Eligibility Criteria," which lists who can and cannot participate in the study
  • Work with the research coordinator to review the written informed consent, including the risks and benefits of the study
  • Inquire about the specific treatments and procedures, location of the study, number of visits, and time obligation
  • Determine whether health insurance is required and whether there are costs to the participant for the medical care, travel, and lodging
  • Ask questions. Remember, it is okay to decide not to participate in research

For More Information

Current clinical studies can be found by using ClincalTrials.gov. Doctors, other trusted medical professionals, and patient organizations may also be aware of studies. Researchers from participating institutions use the database to search for patients or healthy volunteers who meet their study criteria.

How do you find the right clinical study?

  • Discuss the clinical study with a trusted medical provider before enrolling
  • Review the "Study Description," which discusses the purpose of the study, and "Eligibility Criteria," which lists who can and cannot participate in the study
  • Work with the research coordinator to review the written informed consent, including the risks and benefits of the study
  • Inquire about the specific treatments and procedures, location of the study, number of visits, and time obligation
  • Determine whether health insurance is required and whether there are costs to the participant for the medical care, travel, and lodging
  • Ask questions. Remember, it is okay to decide not to participate in research

For More Information

Current clinical studies can be found by using ClincalTrials.gov. Doctors, other trusted medical professionals, and patient organizations may also be aware of studies. Researchers from participating institutions use the database to search for patients or healthy volunteers who meet their study criteria.

Last Updated: Nov. 8, 2021