Disorder of glycolysis

Disorder of glycolysis is a group of rare inherited metabolic conditions that affect how your body breaks down glucose (sugar) to produce energy. Glycolysis is one of the most important chemical pathways in the body — it is the process by which cells convert glucose into usable energy. When one of the enzymes involved in this pathway does not work properly due to a genetic change, cells cannot produce energy efficiently. This can affect many organs and tissues, especially those with high energy demands like red blood cells, muscles, and the brain. Symptoms vary depending on which specific enzyme is affected, but common problems include chronic anemia (low red blood cell counts), muscle weakness, exercise intolerance, and sometimes neurological issues. In some forms, red blood cells break down too quickly, a condition called hemolytic anemia. Other forms may primarily affect the muscles, causing cramps, pain, or weakness during physical activity. Treatment is mostly supportive, as there is currently no cure for most glycolysis disorders. Management may include blood transfusions for severe anemia, careful monitoring of energy levels, dietary adjustments, and avoidance of triggers that worsen symptoms. Some patients benefit from supplements or specific dietary strategies. Early diagnosis and ongoing care from a team of specialists can help improve quality of life. Well-known specific disorders within this group include pyruvate kinase deficiency, phosphofructokinase deficiency (Tarui disease), and glucose-6-phosphate isomerase deficiency, among others.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Bring these to your next appointment

• Q1.Which specific enzyme or gene is affected in my case, and what does that mean for my symptoms?,Will I or my child need regular blood transfusions, and if so, how will iron overload be managed?,Is splenectomy recommended, and what are the risks and benefits?,Are there any new or emerging treatments, such as mitapivat or gene therapy, that might apply to my specific type?,What physical activities are safe, and which should be avoided?,Should other family members be tested for this condition?,What warning signs should prompt me to seek emergency care?

Common questions about Disorder of glycolysis