Metabolic Disorders 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. 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. National Institute of Diabetes and Digestive and Kidney Diseases Specifics Acid Lipase Disease National Institute of Neurological Disorders and Stroke Barth Syndrome (BTHS) National Institute of Neurological Disorders and Stroke Central Pontine Myelinolysis National Institute of Neurological Disorders and Stroke Farber’s Disease National Institute of Neurological Disorders and Stroke Gangliosidoses National Institute of Neurological Disorders and Stroke Hurler Syndrome National Marrow Donor Program Hyperoxaluria Oxalosis and Hyperoxaluria Foundation Learning about Trimethylaminuria National Human Genome Research Institute Lesch-Nyhan Syndrome National Institute of Neurological Disorders and Stroke Lipid Storage Diseases National Institute of Neurological Disorders and Stroke Lipid Storage Diseases National Institute of Neurological Disorders and Stroke Metabolic Diseases of Muscle Muscular Dystrophy Association Mitochondrial Myopathies Muscular Dystrophy Association Mitochondrial Myopathy National Institute of Neurological Disorders and Stroke Mucolipidoses National Institute of Neurological Disorders and Stroke Mucolipidoses National Institute of Neurological Disorders and Stroke Mucopolysaccharidoses National Institute of Neurological Disorders and Stroke Mucopolysaccharidoses National Institute of Neurological Disorders and Stroke Pompe Disease National Institute of Neurological Disorders and Stroke Type I Glycogen Storage Disease American Liver Foundation Understanding Pompe Disease National Institute of Arthritis and Musculoskeletal and Skin Diseases What Is a Urea Cycle Disorder? National Urea Cycle Disorders Foundation Array Acid mucopolysaccharides Acidosis Alkalosis Lactic acid test Metabolic acidosis Metabolic neuropathies Metabolism Nemours Foundation Pseudohypoparathyroidism Encyclopedia Alkaptonuria Bassen-Kornzweig syndrome Blood gases Cerebral amyloid angiopathy Chylomicronemia syndrome Crigler-Najjar syndrome Dementia due to metabolic causes Familial lipoprotein lipase deficiency Galactose-1-phospate uridyltransferase Galactosemia Hartnup disorder Hereditary fructose intolerance Hereditary urea cycle abnormality Homocystinuria Hunter syndrome Hurler syndrome Inborn errors of metabolism Lesch-Nyhan syndrome McArdle syndrome Methylmalonic acid blood test Methylmalonic acidemia Morquio syndrome Niemann-Pick disease Sanfilippo syndrome Scheie syndrome Transient familial hyperbilirubinemia Urine odor Von Gierke disease Xanthoma Clinical Trials ClinicalTrials.gov: Metabolic Diseases National Institutes of Health ClinicalTrials.gov: Mucolipidoses National Institutes of Health ClinicalTrials.gov: Mucopolysaccharidoses National Institutes of Health Diagnosis and Tests Comprehensive Metabolic Panel American Association for Clinical Chemistry Lactate Test American Association for Clinical Chemistry MedlinePlus: Newborn Screening National Library of Medicine Methylmalonic Acid Test American Association for Clinical Chemistry Urine Odor Mayo Foundation for Medical Education and Research Reference Desk Endocrine & Metabolic Diseases A-Z National Institute of Diabetes and Digestive and Kidney Diseases Statistics and Research Endocrine and Metabolic Disorders Maternal and Child Health Bureau Find an Expert Genetic and Rare Diseases Information Center Genetic and Rare Diseases Information Center National Institute of Diabetes and Digestive and Kidney Diseases National Institute of Diabetes and Digestive and Kidney Diseases Genetics Genetics Home Reference: 17β-hydroxysteroid dehydrogenase type 10 deficiency National Library of Medicine Genetics Home Reference: 2-hydroxyglutaric aciduria National Library of Medicine Genetics Home Reference: 2-methylbutyryl-CoA dehydrogenase deficiency National Library of Medicine Genetics Home Reference: 3-hydroxy-3-methylglutaryl-CoA lyase deficiency National Library of Medicine Genetics Home Reference: 3-hydroxyacyl-CoA dehydrogenase deficiency National Library of Medicine Genetics Home Reference: 3-methylcrotonyl-CoA carboxylase deficiency National Library of Medicine Genetics Home Reference: 3-methylglutaconyl-CoA hydratase deficiency National Library of Medicine Genetics Home Reference: abetalipoproteinemia National Library of Medicine Genetics Home Reference: acatalasemia National Library of Medicine Genetics Home Reference: adenosine deaminase deficiency National Library of Medicine Genetics Home Reference: ALG1-congenital disorder of glycosylation National Library of Medicine Genetics Home Reference: ALG12-congenital disorder of glycosylation National Library of Medicine Genetics Home Reference: ALG6-congenital disorder of glycosylation National Library of Medicine Genetics Home Reference: alkaptonuria National Library of Medicine Genetics Home Reference: alpha-mannosidosis National Library of Medicine Genetics Home Reference: aminoacylase 1 deficiency National Library of Medicine Genetics Home Reference: arginase deficiency National Library of Medicine Genetics Home Reference: arginine:glycine amidinotransferase deficiency National Library of Medicine Genetics Home Reference: argininosuccinic aciduria National Library of Medicine Genetics Home Reference: aspartylglucosaminuria National Library of Medicine Genetics Home Reference: Barth syndrome National Library of Medicine Genetics Home Reference: beta-ketothiolase deficiency National Library of Medicine Genetics Home Reference: beta-mannosidosis National Library of Medicine Genetics Home Reference: beta-ureidopropionase deficiency National Library of Medicine Genetics Home Reference: biotinidase deficiency National Library of Medicine Genetics Home Reference: carbamoyl phosphate synthetase I deficiency National Library of Medicine Genetics Home Reference: carnitine palmitoyltransferase I deficiency National Library of Medicine Genetics Home Reference: carnitine palmitoyltransferase II deficiency National Library of Medicine Genetics Home Reference: carnitine-acylcarnitine translocase deficiency National Library of Medicine Genetics Home Reference: cerebrotendinous xanthomatosis National Library of Medicine Genetics Home Reference: Chanarin-Dorfman syndrome National Library of Medicine Genetics Home Reference: chylomicron retention disease National Library of Medicine Genetics Home Reference: citrullinemia National Library of Medicine Genetics Home Reference: COG5-congenital disorder of glycosylation National Library of Medicine Genetics Home Reference: combined malonic and methylmalonic aciduria National Library of Medicine Genetics Home Reference: congenital hyperinsulinism National Library of Medicine Genetics Home Reference: cytochrome P450 oxidoreductase deficiency National Library of Medicine Genetics Home Reference: deoxyguanosine kinase deficiency National Library of Medicine Genetics Home Reference: desmosterolosis National Library of Medicine Genetics Home Reference: dihydrolipoamide dehydrogenase deficiency National Library of Medicine Genetics Home Reference: dihydropyrimidinase deficiency National Library of Medicine Genetics Home Reference: dihydropyrimidine dehydrogenase deficiency National Library of Medicine Genetics Home Reference: DOLK-congenital disorder of glycosylation National Library of Medicine Genetics Home Reference: essential pentosuria National Library of Medicine Genetics Home Reference: ethylmalonic encephalopathy National Library of Medicine Genetics Home Reference: Fabry disease National Library of Medicine Genetics Home Reference: familial lipoprotein lipase deficiency National Library of Medicine Genetics Home Reference: Farber lipogranulomatosis National Library of Medicine Genetics Home Reference: fucosidosis National Library of Medicine Genetics Home Reference: fumarase deficiency National Library of Medicine Genetics Home Reference: galactosemia National Library of Medicine Genetics Home Reference: galactosialidosis National Library of Medicine Genetics Home Reference: GLUT1 deficiency syndrome National Library of Medicine Genetics Home Reference: glutamate formiminotransferase deficiency National Library of Medicine Genetics Home Reference: glutaric acidemia type I National Library of Medicine Genetics Home Reference: glutaric acidemia type II National Library of Medicine Genetics Home Reference: glutathione synthetase deficiency National Library of Medicine Genetics Home Reference: glycine encephalopathy National Library of Medicine Genetics Home Reference: glycogen storage disease type 0 National Library of Medicine Genetics Home Reference: glycogen storage disease type I National Library of Medicine Genetics Home Reference: glycogen storage disease type III National Library of Medicine Genetics Home Reference: glycogen storage disease type IV National Library of Medicine Genetics Home Reference: glycogen storage disease type IX National Library of Medicine Genetics Home Reference: glycogen storage disease type V National Library of Medicine Genetics Home Reference: glycogen storage disease type VI National Library of Medicine Genetics Home Reference: glycogen storage disease type VII National Library of Medicine Genetics Home Reference: GM1 gangliosidosis National Library of Medicine Genetics Home Reference: GRACILE syndrome National Library of Medicine Genetics Home Reference: guanidinoacetate methyltransferase deficiency National Library of Medicine Genetics Home Reference: Hartnup disease National Library of Medicine Genetics Home Reference: hereditary fructose intolerance National Library of Medicine Genetics Home Reference: histidinemia National Library of Medicine Genetics Home Reference: holocarboxylase synthetase deficiency National Library of Medicine Genetics Home Reference: homocystinuria National Library of Medicine Genetics Home Reference: Hutchinson-Gilford progeria syndrome National Library of Medicine Genetics Home Reference: hypercholesterolemia National Library of Medicine Genetics Home Reference: hyperlysinemia National Library of Medicine Genetics Home Reference: hypermethioninemia National Library of Medicine Genetics Home Reference: hyperphosphatemic familial tumoral calcinosis National Library of Medicine Genetics Home Reference: hyperprolinemia National Library of Medicine Genetics Home Reference: hypophosphatasia National Library of Medicine Genetics Home Reference: isobutyryl-CoA dehydrogenase deficiency National Library of Medicine Genetics Home Reference: isovaleric acidemia National Library of Medicine Genetics Home Reference: lactate dehydrogenase deficiency National Library of Medicine Genetics Home Reference: Lesch-Nyhan syndrome National Library of Medicine Genetics Home Reference: long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency National Library of Medicine Genetics Home Reference: lysinuric protein intolerance National Library of Medicine Genetics Home Reference: malonyl-CoA decarboxylase deficiency National Library of Medicine Genetics Home Reference: maple syrup urine disease National Library of Medicine Genetics Home Reference: medium-chain acyl-CoA dehydrogenase deficiency National Library of Medicine Genetics Home Reference: MEGDEL syndrome National Library of Medicine Genetics Home Reference: methylmalonic acidemia National Library of Medicine Genetics Home Reference: methylmalonic acidemia with homocystinuria National Library of Medicine Genetics Home Reference: mitochondrial complex III deficiency National Library of Medicine Genetics Home Reference: mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes National Library of Medicine Genetics Home Reference: mitochondrial neurogastrointestinal encephalopathy disease National Library of Medicine Genetics Home Reference: mitochondrial trifunctional protein deficiency National Library of Medicine Genetics Home Reference: molybdenum cofactor deficiency National Library of Medicine Genetics Home Reference: mucolipidosis II alpha/beta National Library of Medicine Genetics Home Reference: mucolipidosis III alpha/beta National Library of Medicine Genetics Home Reference: mucolipidosis III gamma National Library of Medicine Genetics Home Reference: mucolipidosis type IV National Library of Medicine Genetics Home Reference: mucopolysaccharidosis type I National Library of Medicine Genetics Home Reference: mucopolysaccharidosis type II National Library of Medicine Genetics Home Reference: mucopolysaccharidosis type III National Library of Medicine Genetics Home Reference: mucopolysaccharidosis type IV National Library of Medicine Genetics Home Reference: mucopolysaccharidosis type VI National Library of Medicine Genetics Home Reference: mucopolysaccharidosis type VII National Library of Medicine Genetics Home Reference: multiple mitochondrial dysfunctions syndrome National Library of Medicine Genetics Home Reference: multiple sulfatase deficiency National Library of Medicine Genetics Home Reference: myoclonic epilepsy with ragged-red fibers National Library of Medicine Genetics Home Reference: N-acetylglutamate synthase deficiency National Library of Medicine Genetics Home Reference: neuropathy, ataxia, and retinitis pigmentosa National Library of Medicine Genetics Home Reference: neutral lipid storage disease with myopathy National Library of Medicine Genetics Home Reference: Niemann-Pick disease National Library of Medicine Genetics Home Reference: ornithine transcarbamylase deficiency National Library of Medicine Genetics Home Reference: ornithine translocase deficiency National Library of Medicine Genetics Home Reference: phosphoglycerate dehydrogenase deficiency National Library of Medicine Genetics Home Reference: phosphoglycerate kinase deficiency National Library of Medicine Genetics Home Reference: phosphoglycerate mutase deficiency National Library of Medicine Genetics Home Reference: phosphoribosylpyrophosphate synthetase superactivity National Library of Medicine Genetics Home Reference: PMM2-congenital disorder of glycosylation National Library of Medicine Genetics Home Reference: Pompe disease National Library of Medicine Genetics Home Reference: primary carnitine deficiency National Library of Medicine Genetics Home Reference: primary hyperoxaluria National Library of Medicine Genetics Home Reference: prolidase deficiency National Library of Medicine Genetics Home Reference: propionic acidemia National Library of Medicine Genetics Home Reference: pseudocholinesterase deficiency National Library of Medicine Genetics Home Reference: pyruvate carboxylase deficiency National Library of Medicine Genetics Home Reference: pyruvate dehydrogenase deficiency National Library of Medicine Genetics Home Reference: rhizomelic chondrodysplasia punctata National Library of Medicine Genetics Home Reference: Schindler disease National Library of Medicine Genetics Home Reference: short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay National Library of Medicine Genetics Home Reference: short-chain acyl-CoA dehydrogenase deficiency National Library of Medicine Genetics Home Reference: sialic acid storage disease National Library of Medicine Genetics Home Reference: sialidosis National Library of Medicine Genetics Home Reference: sialuria National Library of Medicine Genetics Home Reference: sitosterolemia National Library of Medicine Genetics Home Reference: Smith-Lemli-Opitz syndrome National Library of Medicine Genetics Home Reference: succinate-CoA ligase deficiency National Library of Medicine Genetics Home Reference: succinic semialdehyde dehydrogenase deficiency National Library of Medicine Genetics Home Reference: succinyl-CoA:3-ketoacid CoA transferase deficiency National Library of Medicine Genetics Home Reference: trichothiodystrophy National Library of Medicine Genetics Home Reference: trimethylaminuria National Library of Medicine Genetics Home Reference: tyrosinemia National Library of Medicine Genetics Home Reference: very long-chain acyl-CoA dehydrogenase deficiency National Library of Medicine Genetics Home Reference: Wolman disease National Library of Medicine Genetics Home Reference: X-linked creatine deficiency National Library of Medicine Teenagers Metabolism Nemours Foundation Symptoms Mitochondrial Disease: Possible Symptoms United Mitochondrial Disease Foundation Children Morquio Syndrome Nemours Foundation Journal Articles Metabolic Disorders Related Issues Unexplained Weight Loss Mayo Foundation for Medical Education and Research
