Basics
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Summary
Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system (enzymes) 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. If you have a metabolic disorder, something goes wrong with this process.
Carbohydrate metabolism disorders are a group of metabolic disorders. Normally your enzymes break carbohydrates down into glucose (a type of sugar). If you have one of these disorders, you may not have enough enzymes to break down the carbohydrates. Or the enzymes may not work properly. This causes a harmful amount of sugar to build up in your body. That can lead to health problems, some of which can be serious. Some of the disorders are fatal.
These disorders are inherited. Newborn babies get screened for many of them, using blood tests. If there is a family history of one of these disorders, parents can get genetic testing to see whether they carry the gene. Other genetic tests can tell whether the fetus has the disorder or carries the gene for the disorder.
Treatments may include special diets, supplements, and medicines. Some babies may also need additional treatments, if there are complications. For some disorders, there is no cure, but treatments may help with symptoms.
Specifics
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Diabetes: MedlinePlus Health Topic
(National Library of Medicine) Also in Spanish
- Galactosemia (American Liver Foundation)
- Hunter Syndrome (Mayo Foundation for Medical Education and Research) Also in Spanish
- Hurler Syndrome (National Marrow Donor Program)
- MPS and ML (National MPS Society)
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Mucopolysaccharidoses
(National Institute of Neurological Disorders and Stroke) - Short Summary
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Mucopolysaccharidoses
(National Institute of Neurological Disorders and Stroke) Also in Spanish
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Pompe Disease
(National Institute of Neurological Disorders and Stroke)
- Type I Glycogen Storage Disease (American Liver Foundation)
Genetics
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Genetics Home Reference: alpha-mannosidosis
(National Library of Medicine)
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Genetics Home Reference: beta-mannosidosis
(National Library of Medicine)
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Genetics Home Reference: essential pentosuria
(National Library of Medicine)
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Genetics Home Reference: fucosidosis
(National Library of Medicine)
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Genetics Home Reference: galactosemia
(National Library of Medicine)
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Genetics Home Reference: galactosialidosis
(National Library of Medicine)
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Genetics Home Reference: GLUT1 deficiency syndrome
(National Library of Medicine)
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Genetics Home Reference: glycogen storage disease type 0
(National Library of Medicine)
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Genetics Home Reference: glycogen storage disease type I
(National Library of Medicine)
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Genetics Home Reference: glycogen storage disease type III
(National Library of Medicine)
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Genetics Home Reference: glycogen storage disease type IV
(National Library of Medicine)
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Genetics Home Reference: glycogen storage disease type IX
(National Library of Medicine)
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Genetics Home Reference: glycogen storage disease type V
(National Library of Medicine)
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Genetics Home Reference: glycogen storage disease type VI
(National Library of Medicine)
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Genetics Home Reference: glycogen storage disease type VII
(National Library of Medicine)
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Genetics Home Reference: hereditary fructose intolerance
(National Library of Medicine)
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Genetics Home Reference: lactate dehydrogenase deficiency
(National Library of Medicine)
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Genetics Home Reference: mucopolysaccharidosis type I
(National Library of Medicine)
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Genetics Home Reference: mucopolysaccharidosis type II
(National Library of Medicine)
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Genetics Home Reference: mucopolysaccharidosis type III
(National Library of Medicine)
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Genetics Home Reference: mucopolysaccharidosis type IV
(National Library of Medicine)
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Genetics Home Reference: mucopolysaccharidosis type VI
(National Library of Medicine)
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Genetics Home Reference: mucopolysaccharidosis type VII
(National Library of Medicine)
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Genetics Home Reference: phosphoglycerate kinase deficiency
(National Library of Medicine)
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Genetics Home Reference: phosphoglycerate mutase deficiency
(National Library of Medicine)
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Genetics Home Reference: Pompe disease
(National Library of Medicine)
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Genetics Home Reference: pyruvate dehydrogenase deficiency
(National Library of Medicine)
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Genetics Home Reference: Schindler disease
(National Library of Medicine)
Clinical Trials
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ClinicalTrials.gov: Carbohydrate Metabolism, Inborn Errors
(National Institutes of Health)
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ClinicalTrials.gov: Mucopolysaccharidoses
(National Institutes of Health)
Journal Articles References and abstracts from MEDLINE/PubMed (National Library of Medicine)
- Article: A novel mutation of SGSH and clinical features analysis of...
- Article: Hemolytic jaundice induced by pharmacological dose ascorbic acid in glucose-6-phosphate...
- Article: The Role of Disaccharidase Deficiencies in Functional Abdominal Pain Disorders-A...
- Carbohydrate Metabolism Disorders -- see more articles