Important: This page is general information, not medical advice. It does not recommend or prescribe any treatment. Always consult your doctor or pharmacist before starting, stopping or changing any medicine.
About Metabolic Disorders
Metabolism is the process your body uses to get or make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system break the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body tissues, such as your liver, muscles, and body fat.
A metabolic disorder occurs when abnormal chemical reactions in your body disrupt this process. When this happens, you might have too much of some substances or too little of other ones that you need to stay healthy. There are different groups of disorders. Some affect the breakdown of amino acids, carbohydrates, or lipids. Another group, mitochondrial diseases, affects the parts of the cells that produce the energy.
You can develop a metabolic disorder when some organs, such as your liver or pancreas, become diseased or do not function normally. Diabetes is an example.
It sits within Genetics/Birth Defects and Metabolic Problems.
The lead U.S. institute for this subject is the National Institute of Diabetes and Digestive and Kidney Diseases.
When to speak to someone. Reading about a topic cannot tell you whether it applies to you. Speak to a doctor or pharmacist if symptoms are severe, sudden, getting worse, or simply not going away — and seek emergency care immediately for chest pain, breathing difficulty, sudden weakness or confusion, or a serious allergic reaction.
Research on Metabolic Disorders
51,940 studies areregistered for this condition on ClinicalTrials.gov, the U.S. National Library of Medicine's public registry. A selection is below — the links go straight to the registry entry, not to a summary of ours.
What a registered study does and does not mean. Registration means a study exists and has been declared publicly. It says nothing about whether the treatment being tested works, is safe, or is available to you. Many studies find no benefit — that is what research is for. Never seek out an experimental treatment on the strength of a registry entry alone.
Research currently under way
- Advancing Diabetes Management for People With Physical Disabilities Optimally Through Primary Care-Based Telehealth (ADDOPT)University of Alabama at Birmingham
- Combination Chemotherapy With or Without Atezolizumab in Treating Patients With Stage III Colon Cancer and Deficient DNA Mismatch RepairNational Cancer Institute (NCI)
- A Research Study to Look at How Two Different Doses of CagriSema and One Dose of Semaglutide Help People Living With Obesity With or Without Type 2 Diabetes Lose WeightNovo Nordisk A/S
- Trial of the Combination of Alpha-Lipoic Acid and Mirabegron in Women and in Men With ObesityNational Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
- A Study to Evaluate the Efficacy and Safety of Mitapivat in Pediatric Participants With Pyruvate Kinase Deficiency (PKD) Who Are Not Regularly Transfused, Followed by a 5-Year Extension PeriodAgios Pharmaceuticals, Inc.
- Relationship Between Red Cell Distribution Width (RDW) and HbA1C in Patients With Type 2 Diabetes Mellitus After Glycemic ControlNew Valley University
Research already completed
- Diabetes Prevention Program Outcomes StudyNational Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
- A Study of Retatrutide (LY3437943) in Participants With Type 2 Diabetes Mellitus Who Have Obesity or OverweightEli Lilly and Company
- Study of SHR-1209 Administered by Single-site or Multiple-site Subcutaneous Injections in Healthy VolunteersJiangsu HengRui Medicine Co., Ltd.
- Alleviation of Hypercholesterolemia Through Newly Developed Cookies Supplementedwithpumpkin (Cucurbita Pepo L.) Seeds and Walnuts (Juglans Regia L.) Among Arthrosclerosispatients.Kamran Hanif
- Inherited Diseases, Caregiving, and Social NetworksNational Human Genome Research Institute (NHGRI)
- DIA:CONN P8(Smart Insulin Pen) Study in Diabetes PatientsG2e Co., Ltd
Study data from ClinicalTrials.gov, a service of the U.S. National Library of Medicine. Retrieved 2026-07-30. Registry entries are supplied by study sponsors and investigators; ClinicalTrials.gov does not verify their scientific validity. PocketsInfo is not affiliated with, and not endorsed by, the NLM or the NIH.
Where to read more
Rather than paraphrase, we point you to the primary sources. Every link below is to a government health agency, a national institute or a recognised medical body — grouped by what you are trying to find out.
Start Here
- Metabolic MyopathiesAmerican College of Rheumatology
Diagnosis and Tests
- Comprehensive Metabolic Panel (CMP)National Library of Medicine
- Lactate TestNational Library of Medicine
Genetics
- Acatalasemia: MedlinePlus GeneticsNational Library of Medicine
- ALG1-congenital disorder of glycosylation: MedlinePlus GeneticsNational Library of Medicine
- ALG12-congenital disorder of glycosylation: MedlinePlus GeneticsNational Library of Medicine
- ALG6-congenital disorder of glycosylation: MedlinePlus GeneticsNational Library of Medicine
- Aspartylglucosaminuria: MedlinePlus GeneticsNational Library of Medicine
- Beta-ureidopropionase deficiency: MedlinePlus GeneticsNational Library of Medicine
- Biotinidase deficiency: MedlinePlus GeneticsNational Library of Medicine
- Carbonic anhydrase VA deficiency: MedlinePlus GeneticsNational Library of Medicine
- Chylomicron retention disease: MedlinePlus GeneticsNational Library of Medicine
- Citrullinemia: MedlinePlus GeneticsNational Library of Medicine
- Congenital hyperinsulinism: MedlinePlus GeneticsNational Library of Medicine
- Dihydropyrimidinase deficiency: MedlinePlus GeneticsNational Library of Medicine
- Dihydropyrimidine dehydrogenase deficiency: MedlinePlus GeneticsNational Library of Medicine
- Free sialic acid storage disorder: MedlinePlus GeneticsNational Library of Medicine
- Fumarase deficiency: MedlinePlus GeneticsNational Library of Medicine
- Glutathione synthetase deficiency: MedlinePlus GeneticsNational Library of Medicine
- GM1 gangliosidosis: MedlinePlus GeneticsNational Library of Medicine
- Hypophosphatasia: MedlinePlus GeneticsNational Library of Medicine
- Molybdenum cofactor deficiency: MedlinePlus GeneticsNational Library of Medicine
Clinical Trials
- ClinicalTrials.gov: Metabolic DiseasesNational Institutes of Health
- ClinicalTrials.gov: MucolipidosesNational Institutes of Health
Medical subject headings
Clinicians and researchers index this subject under Metabolic Diseases. These are the terms to use when searching medical literature.
This page is built from the MedlinePlus health topic record for Metabolic Disorders, a service of the U.S. National Library of Medicine (NLM), National Institutes of Health. Information is from MedlinePlus.gov. PocketsInfo is not affiliated with, and is not endorsed by, the NLM or the NIH. Retrieved 30 July 2026.