Inborn errors of carbohydrate metabolism: Difference between revisions
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{{Infobox medical condition | |||
| name = Inborn errors of carbohydrate metabolism | |||
| image = [[File:Metabolism_of_common_monosaccharides,_and_related_reactions.png|250px]] | |||
| caption = Metabolism of common monosaccharides and related reactions | |||
| field = [[Endocrinology]] | |||
| symptoms = [[Hypoglycemia]], [[hyperglycemia]], [[lactic acidosis]], [[hepatomegaly]], [[failure to thrive]] | |||
| complications = [[Neurological damage]], [[organ failure]] | |||
| onset = [[Infancy]] or [[childhood]] | |||
| duration = [[Chronic]] | |||
| causes = [[Genetic mutation]] | |||
| risks = [[Family history]] | |||
| diagnosis = [[Genetic testing]], [[biochemical analysis]] | |||
| differential = [[Glycogen storage disease]], [[galactosemia]], [[fructose intolerance]] | |||
| treatment = [[Dietary management]], [[enzyme replacement therapy]] | |||
| prognosis = Varies depending on specific condition | |||
| frequency = Rare | |||
}} | |||
[[File:Glycogenesis.png|Glycogenesis|thumb|left]] | |||
[[File:Glycogen.svg|Glycogen|thumb|left]] | |||
'''Inborn errors of carbohydrate metabolism''' are a group of [[metabolic disorders]] that affect the body's ability to metabolize [[carbohydrate]]s. These disorders are typically present from birth and are caused by genetic mutations that result in enzyme deficiencies. The disorders can lead to a variety of health problems, including [[hypoglycemia]], [[lactic acidosis]], and [[organomegaly]]. | '''Inborn errors of carbohydrate metabolism''' are a group of [[metabolic disorders]] that affect the body's ability to metabolize [[carbohydrate]]s. These disorders are typically present from birth and are caused by genetic mutations that result in enzyme deficiencies. The disorders can lead to a variety of health problems, including [[hypoglycemia]], [[lactic acidosis]], and [[organomegaly]]. | ||
==Types of Inborn Errors of Carbohydrate Metabolism== | ==Types of Inborn Errors of Carbohydrate Metabolism== | ||
There are several types of inborn errors of carbohydrate metabolism, including: | There are several types of inborn errors of carbohydrate metabolism, including: | ||
* '''[[Galactosemia]]''': This disorder is caused by a deficiency in the enzyme galactose-1-phosphate uridyltransferase, which is necessary for the metabolism of the sugar galactose. Symptoms can include [[jaundice]], [[hepatomegaly]], and [[cataracts]]. | * '''[[Galactosemia]]''': This disorder is caused by a deficiency in the enzyme galactose-1-phosphate uridyltransferase, which is necessary for the metabolism of the sugar galactose. Symptoms can include [[jaundice]], [[hepatomegaly]], and [[cataracts]]. | ||
* '''[[Fructose intolerance]]''': This disorder is caused by a deficiency in the enzyme aldolase B, which is necessary for the metabolism of the sugar fructose. Symptoms can include [[hypoglycemia]], [[jaundice]], and [[vomiting]]. | * '''[[Fructose intolerance]]''': This disorder is caused by a deficiency in the enzyme aldolase B, which is necessary for the metabolism of the sugar fructose. Symptoms can include [[hypoglycemia]], [[jaundice]], and [[vomiting]]. | ||
* '''[[Glycogen storage diseases]]''': These disorders are caused by deficiencies in various enzymes necessary for the metabolism of glycogen, a storage form of glucose. Symptoms can include [[hypoglycemia]], [[hepatomegaly]], and [[muscle weakness]]. | * '''[[Glycogen storage diseases]]''': These disorders are caused by deficiencies in various enzymes necessary for the metabolism of glycogen, a storage form of glucose. Symptoms can include [[hypoglycemia]], [[hepatomegaly]], and [[muscle weakness]]. | ||
==Diagnosis and Treatment== | ==Diagnosis and Treatment== | ||
Diagnosis of inborn errors of carbohydrate metabolism typically involves [[genetic testing]] to identify the specific enzyme deficiency. Treatment typically involves dietary management to avoid the sugars that cannot be properly metabolized. | Diagnosis of inborn errors of carbohydrate metabolism typically involves [[genetic testing]] to identify the specific enzyme deficiency. Treatment typically involves dietary management to avoid the sugars that cannot be properly metabolized. | ||
In some cases, enzyme replacement therapy may be used to provide the body with the missing enzyme. However, this treatment is not available for all types of inborn errors of carbohydrate metabolism. | In some cases, enzyme replacement therapy may be used to provide the body with the missing enzyme. However, this treatment is not available for all types of inborn errors of carbohydrate metabolism. | ||
==See Also== | ==See Also== | ||
* [[Metabolic disorder]] | * [[Metabolic disorder]] | ||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
* [[Enzyme deficiency]] | * [[Enzyme deficiency]] | ||
[[Category:Metabolic disorders]] | [[Category:Metabolic disorders]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
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{{Metabolic-pathology-stub}} | {{Metabolic-pathology-stub}} | ||
{{Genetics-stub}} | {{Genetics-stub}} | ||
Latest revision as of 21:28, 9 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Inborn errors of carbohydrate metabolism | |
|---|---|
| |
| Synonyms | N/A |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Hypoglycemia, hyperglycemia, lactic acidosis, hepatomegaly, failure to thrive |
| Complications | Neurological damage, organ failure |
| Onset | Infancy or childhood |
| Duration | Chronic |
| Types | N/A |
| Causes | Genetic mutation |
| Risks | Family history |
| Diagnosis | Genetic testing, biochemical analysis |
| Differential diagnosis | Glycogen storage disease, galactosemia, fructose intolerance |
| Prevention | N/A |
| Treatment | Dietary management, enzyme replacement therapy |
| Medication | N/A |
| Prognosis | Varies depending on specific condition |
| Frequency | Rare |
| Deaths | N/A |
Inborn errors of carbohydrate metabolism are a group of metabolic disorders that affect the body's ability to metabolize carbohydrates. These disorders are typically present from birth and are caused by genetic mutations that result in enzyme deficiencies. The disorders can lead to a variety of health problems, including hypoglycemia, lactic acidosis, and organomegaly.
Types of Inborn Errors of Carbohydrate Metabolism[edit]
There are several types of inborn errors of carbohydrate metabolism, including:
- Galactosemia: This disorder is caused by a deficiency in the enzyme galactose-1-phosphate uridyltransferase, which is necessary for the metabolism of the sugar galactose. Symptoms can include jaundice, hepatomegaly, and cataracts.
- Fructose intolerance: This disorder is caused by a deficiency in the enzyme aldolase B, which is necessary for the metabolism of the sugar fructose. Symptoms can include hypoglycemia, jaundice, and vomiting.
- Glycogen storage diseases: These disorders are caused by deficiencies in various enzymes necessary for the metabolism of glycogen, a storage form of glucose. Symptoms can include hypoglycemia, hepatomegaly, and muscle weakness.
Diagnosis and Treatment[edit]
Diagnosis of inborn errors of carbohydrate metabolism typically involves genetic testing to identify the specific enzyme deficiency. Treatment typically involves dietary management to avoid the sugars that cannot be properly metabolized. In some cases, enzyme replacement therapy may be used to provide the body with the missing enzyme. However, this treatment is not available for all types of inborn errors of carbohydrate metabolism.
See Also[edit]
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