Genetic metabolic diseases are health conditions people are born with. They change how the body uses food for energy and growth. This can cause harmful substances to build up or keep the body from getting what it needs to stay healthy.

Genetic metabolic diseases can impact many parts of the body. They can lead to serious health problems if not treated. Experts can help manage many of these conditions through special diets, medicine or other forms of care.

Symptoms vary by condition, but may include:

• Poor growth or trouble gaining weight
• Low energy or extreme fatigue
• Feeding problems, such as poor appetite or throwing up
• Delays in development or movement
• Seizures
• Unusual body odor or yellowing of the skin and eyes

These symptoms can show up at birth, during childhood or later in life. Some are mild, while others can be serious. Early testing and treatment can help ease symptoms.

There are many kinds of genetic metabolic diseases. Each one impacts the body in a different way, based on which body process is not working the way it should.

Lysosomal Storage Diseases

Lysosomal storage diseases (LSDs) are rare genetic conditions where cells are missing enzymes that help break down waste. When waste builds up, it can cause problems in organs such as the brain, heart, liver and bones. These diseases often get worse over time, but treatments can help manage their symptoms.

Pompe Disease 

Pompe disease is a type of LSD. It happens when the body can’t break down a type of sugar in the cells. This causes sugar to build up and damage muscles, including the heart. Treatment can include medicine that helps the body break down sugar buildup in the cells.

Gaucher Disease

Gaucher disease is another type of LSD. It happens when a person is missing an enzyme that breaks down fats. These fats build up in the liver, spleen, bones or brain. It can cause pain, swelling and other problems. Treatment can include medicine to replace the missing enzyme.

Phenylketonuria

Phenylketonuria (PKU) is a genetic condition where the body can’t break down a part of protein. If too much of it builds up, it can cause brain damage.

Doctors test babies for PKU soon after birth. If they find it early, families can manage it with a low-protein diet and special formula.

We have experts and programs that treat kids and some adults with genetic metabolic diseases. We’ll help find the right care plan for your family.

Metabolic and Biochemical Dietitians

Our registered dietitians have special training in conditions that impact how the body breaks down food. They look at nutrition, growth, labs and diet to make a care plan for each child. They teach and guide kids and their families to help carry out their care plans.

Lysosomal Storage Diseases Program

The Lysosomal Storage Diseases (LSDs) Program at Children’s Wisconsin helps kids and adults with many types of LSDs. We test and treat each person with the care you would expect from a top hospital.

Our team includes:

• Genetic doctors
• Heart doctors
• Nurse practitioners
• Genetic counselors

We work together to build the best care plan for each person we see. If needed, we’ll help set up visits with other experts who know how to treat people with LSDs.

Phenylketonuria Program 

In our Phenylketonuria (PKU) Program, we diagnose and test kids and adults with PKU. We also provide nutrition therapy, genetic counseling and ongoing care.

Our team includes:

• Doctors
• Nurse practitioners
• Dieticians
• Genetic counselors
• Social worker

We help make a care plan that fits the needs of each patient with PKU and their families. If needed, we’ll help set up visits with other experts who know how to treat people with PKU.

The PKU team also hosts patient events each year. These events offer training on making low-protein foods. They also allow families affected by PKU to meet and network.

Metabolic Disease Program

The Metabolic Disease Program at Children’s Wisconsin helps kids and adults with many different kinds of metabolic conditions. We diagnose, treat and help people manage these diseases.

Conditions we treat:

• LSDs
• PKU
• Mitochondrial disease
• Other metabolic disorders