Basics
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Summary
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.
Diagnosis and Tests
- Comprehensive Metabolic Panel (CMP) (National Library of Medicine) Also in Spanish
- Lactate Test (National Library of Medicine) Also in Spanish
- Newborn Screening: MedlinePlus Health Topic (National Library of Medicine) Also in Spanish
Specifics
- Learning about Trimethylaminuria (National Human Genome Research Institute)
- Lesch-Nyhan Syndrome (National Institute of Neurological Disorders and Stroke)
- What Is a Urea Cycle Disorder? (National Urea Cycle Disorders Foundation)
Genetics
- Acatalasemia: MedlinePlus Genetics (National Library of Medicine)
- ALG1-congenital disorder of glycosylation: MedlinePlus Genetics (National Library of Medicine)
- ALG12-congenital disorder of glycosylation: MedlinePlus Genetics (National Library of Medicine)
- ALG6-congenital disorder of glycosylation: MedlinePlus Genetics (National Library of Medicine)
- Aspartylglucosaminuria: MedlinePlus Genetics (National Library of Medicine)
- Beta-ureidopropionase deficiency: MedlinePlus Genetics (National Library of Medicine)
- Biotinidase deficiency: MedlinePlus Genetics (National Library of Medicine)
- Carbonic anhydrase VA deficiency: MedlinePlus Genetics (National Library of Medicine)
- Chylomicron retention disease: MedlinePlus Genetics (National Library of Medicine)
- Citrullinemia: MedlinePlus Genetics (National Library of Medicine)
- Congenital hyperinsulinism: MedlinePlus Genetics (National Library of Medicine)
- Dihydropyrimidinase deficiency: MedlinePlus Genetics (National Library of Medicine)
- Dihydropyrimidine dehydrogenase deficiency: MedlinePlus Genetics (National Library of Medicine)
- Fumarase deficiency: MedlinePlus Genetics (National Library of Medicine)
- Glutathione synthetase deficiency: MedlinePlus Genetics (National Library of Medicine)
- GM1 gangliosidosis: MedlinePlus Genetics (National Library of Medicine)
- Hypophosphatasia: MedlinePlus Genetics (National Library of Medicine)
- Molybdenum cofactor deficiency: MedlinePlus Genetics (National Library of Medicine)
- Mucolipidosis II alpha/beta: MedlinePlus Genetics (National Library of Medicine)
- Mucolipidosis III alpha/beta: MedlinePlus Genetics (National Library of Medicine)
- Mucolipidosis III gamma: MedlinePlus Genetics (National Library of Medicine)
- Multiple sulfatase deficiency: MedlinePlus Genetics (National Library of Medicine)
- N-acetylglutamate synthase deficiency: MedlinePlus Genetics (National Library of Medicine)
- NGLY1-congenital disorder of deglycosylation: MedlinePlus Genetics (National Library of Medicine)
- Ornithine transcarbamylase deficiency: MedlinePlus Genetics (National Library of Medicine)
- Phosphoribosylpyrophosphate synthetase superactivity: MedlinePlus Genetics (National Library of Medicine)
- PMM2-congenital disorder of glycosylation: MedlinePlus Genetics (National Library of Medicine)
- Pseudocholinesterase deficiency: MedlinePlus Genetics (National Library of Medicine)
- Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay: MedlinePlus Genetics (National Library of Medicine)
- Sialic acid storage disease: MedlinePlus Genetics (National Library of Medicine)
- Sialidosis: MedlinePlus Genetics (National Library of Medicine)
- Sialuria: MedlinePlus Genetics (National Library of Medicine)
- SLC35A2-congenital disorder of glycosylation: MedlinePlus Genetics (National Library of Medicine)
- Trichothiodystrophy: MedlinePlus Genetics (National Library of Medicine)
- Trimethylaminuria: MedlinePlus Genetics (National Library of Medicine)
Clinical Trials
- ClinicalTrials.gov: Metabolic Diseases (National Institutes of Health)
- ClinicalTrials.gov: Mucolipidoses (National Institutes of Health)
Journal Articles References and abstracts from MEDLINE/PubMed (National Library of Medicine)
Teenagers
- Metabolism (Nemours Foundation)
Patient Handouts
- Acidosis (Medical Encyclopedia) Also in Spanish
- Alkalosis (Medical Encyclopedia) Also in Spanish
- Lactic acid test (Medical Encyclopedia) Also in Spanish
- Metabolic acidosis (Medical Encyclopedia) Also in Spanish
- Metabolic neuropathies (Medical Encyclopedia) Also in Spanish
- Pseudohypoparathyroidism (Medical Encyclopedia) Also in Spanish