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Metabolic Disorders
URL of this page: https://medlineplus.gov/metabolicdisorders.html

Metabolic Disorders

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Basics

  • Summary
  • Start Here
  • Diagnosis and Tests

Learn More

  • Specifics
  • Genetics

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Research

  • Clinical Trials
  • Journal Articles

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For You

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  • Patient Handouts

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.

Start Here

  • Metabolism (Nemours Foundation) Also in Spanish

Diagnosis and Tests

  • Comprehensive Metabolic Panel (CMP) From the National Institutes of Health (National Library of Medicine) Also in Spanish
  • Lactate Test From the National Institutes of Health (National Library of Medicine) Also in Spanish
  • Newborn Screening: MedlinePlus Health Topic From the National Institutes of Health (National Library of Medicine) Also in Spanish

Specifics

  • Learning about Trimethylaminuria From the National Institutes of Health (National Human Genome Research Institute)
  • Lesch-Nyhan Syndrome From the National Institutes of Health (Genetic and Rare Diseases Information Center)
  • What Is a Urea Cycle Disorder? (National Urea Cycle Disorders Foundation)

Genetics

  • Acatalasemia: MedlinePlus Genetics From the National Institutes of Health (National Library of Medicine)
  • ALG1-congenital disorder of glycosylation: MedlinePlus Genetics From the National Institutes of Health (National Library of Medicine)
  • ALG12-congenital disorder of glycosylation: MedlinePlus Genetics From the National Institutes of Health (National Library of Medicine)
  • ALG6-congenital disorder of glycosylation: MedlinePlus Genetics From the National Institutes of Health (National Library of Medicine)
  • Aspartylglucosaminuria: MedlinePlus Genetics From the National Institutes of Health (National Library of Medicine)
  • Beta-ureidopropionase deficiency: MedlinePlus Genetics From the National Institutes of Health (National Library of Medicine)
  • Biotinidase deficiency: MedlinePlus Genetics From the National Institutes of Health (National Library of Medicine)
  • Carbonic anhydrase VA deficiency: MedlinePlus Genetics From the National Institutes of Health (National Library of Medicine)
  • Chylomicron retention disease: MedlinePlus Genetics From the National Institutes of Health (National Library of Medicine)
  • Citrullinemia: MedlinePlus Genetics From the National Institutes of Health (National Library of Medicine)
  • Congenital hyperinsulinism: MedlinePlus Genetics From the National Institutes of Health (National Library of Medicine)
  • Dihydropyrimidinase deficiency: MedlinePlus Genetics From the National Institutes of Health (National Library of Medicine)
  • Dihydropyrimidine dehydrogenase deficiency: MedlinePlus Genetics From the National Institutes of Health (National Library of Medicine)
  • Fumarase deficiency: MedlinePlus Genetics From the National Institutes of Health (National Library of Medicine)
  • Glutathione synthetase deficiency: MedlinePlus Genetics From the National Institutes of Health (National Library of Medicine)
  • GM1 gangliosidosis: MedlinePlus Genetics From the National Institutes of Health (National Library of Medicine)
  • Hypophosphatasia: MedlinePlus Genetics From the National Institutes of Health (National Library of Medicine)
  • Molybdenum cofactor deficiency: MedlinePlus Genetics From the National Institutes of Health (National Library of Medicine)
  • Mucolipidosis II alpha/beta: MedlinePlus Genetics From the National Institutes of Health (National Library of Medicine)
  • Mucolipidosis III alpha/beta: MedlinePlus Genetics From the National Institutes of Health (National Library of Medicine)
  • Mucolipidosis III gamma: MedlinePlus Genetics From the National Institutes of Health (National Library of Medicine)
  • Multiple sulfatase deficiency: MedlinePlus Genetics From the National Institutes of Health (National Library of Medicine)
  • N-acetylglutamate synthase deficiency: MedlinePlus Genetics From the National Institutes of Health (National Library of Medicine)
  • NGLY1-congenital disorder of deglycosylation: MedlinePlus Genetics From the National Institutes of Health (National Library of Medicine)
  • Ornithine transcarbamylase deficiency: MedlinePlus Genetics From the National Institutes of Health (National Library of Medicine)
  • Phosphoribosylpyrophosphate synthetase superactivity: MedlinePlus Genetics From the National Institutes of Health (National Library of Medicine)
  • PMM2-congenital disorder of glycosylation: MedlinePlus Genetics From the National Institutes of Health (National Library of Medicine)
  • Pseudocholinesterase deficiency: MedlinePlus Genetics From the National Institutes of Health (National Library of Medicine)
  • Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay: MedlinePlus Genetics From the National Institutes of Health (National Library of Medicine)
  • Sialic acid storage disease: MedlinePlus Genetics From the National Institutes of Health (National Library of Medicine)
  • Sialidosis: MedlinePlus Genetics From the National Institutes of Health (National Library of Medicine)
  • Sialuria: MedlinePlus Genetics From the National Institutes of Health (National Library of Medicine)
  • SLC35A2-congenital disorder of glycosylation: MedlinePlus Genetics From the National Institutes of Health (National Library of Medicine)
  • Trichothiodystrophy: MedlinePlus Genetics From the National Institutes of Health (National Library of Medicine)
  • Trimethylaminuria: MedlinePlus Genetics From the National Institutes of Health (National Library of Medicine)

Clinical Trials

  • ClinicalTrials.gov: Metabolic Diseases From the National Institutes of Health (National Institutes of Health)
  • ClinicalTrials.gov: Mucolipidoses From the National Institutes of Health (National Institutes of Health)

Journal Articles References and abstracts from MEDLINE/PubMed (National Library of Medicine)

  • Article: Therapeutic Potential of Infrared and Related Light Therapies in Metabolic Diseases.
  • Article: The Impact of Selected COL1A1 and COL1A2 Gene Polymorphisms on Bone...
  • Article: The Role of Gut Microbiota in Pediatric Obesity and Metabolic Disorders:...
  • Metabolic Disorders -- see more articles

Find an Expert

  • Genetic and Rare Diseases Information Center From the National Institutes of Health
  • National Institute of Diabetes and Digestive and Kidney Diseases From the National Institutes of Health

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

Topic Image

Metabolic Disorders

MEDICAL ENCYCLOPEDIA

  • Acidosis
  • Alkalosis
  • Blood gases
  • Crigler-Najjar syndrome
  • Dementia due to metabolic causes
  • Hereditary urea cycle abnormality
  • Homocystinuria
  • Inborn errors of metabolism
  • Lactic acid test
  • Lesch-Nyhan syndrome
  • Metabolic acidosis
  • Metabolic neuropathies
  • Pseudohypoparathyroidism
  • Transient familial hyperbilirubinemia
  • Urine odor

Related Health Topics

  • Amino Acid Metabolism Disorders
  • Amyloidosis
  • Carbohydrate Metabolism Disorders
  • G6PD Deficiency
  • Gaucher Disease
  • Genetic Brain Disorders
  • Hemochromatosis
  • Lipid Metabolism Disorders
  • Malabsorption Syndromes
  • Mitochondrial Diseases
  • Phenylketonuria
  • Porphyria
  • Rickets
  • Wilson Disease

National Institutes of Health

The primary NIH organization for research on Metabolic Disorders is the National Institute of Diabetes and Digestive and Kidney Diseases

Disclaimers

MedlinePlus links to health information from the National Institutes of Health and other federal government agencies. MedlinePlus also links to health information from non-government Web sites. See our disclaimer about external links and our quality guidelines.

The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.

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